References
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MM Abd El-Aziz, I Barragán, C O'Driscoll, S Borrego, L Abu-Safieh, JI Pieras, MF El-Ashry, E Prigmore, N Carter, G Antiñolo, SS Bhattacharya. Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. Ann. Hum. Genet. 72:463-477 (2008). [PubMed]
MM Abd El-Aziz, I Barragán, CA O'Driscoll, L Goodstadt, E Prigmore, S Borrego, M Mena, JI Pieras, MF El-Ashry, LA Safieh, A Shah, ME Cheetham, NP Carter, C Chakarova, CF Ponting, SS Bhattacharya, G Antinolo. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat. Genet. 40:1285-1287 (2008a). [PubMed]
MM Abd El-Aziz, MF El-Ashry, WM Chan, KL Chong, I Barragán, G Antiñolo, CP Pang, SS Bhattacharya. A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa. Ann. Hum. Genet. 71:281-294 (2006). [PubMed]
A Abid, M Ismail, SQ Mehdi, S Khaliq. Identification of novel mutations in SEMA4A gene associated with retinal degenerative diseases. J. Med. Genet. 43:378-381 (2006). [PubMed]
AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, IJ Campeanu, LB Griffin, S Groenewald, AV Strickland, F Tao, F Speziani, L Abreu, R Schüle, L Caporali, C La Morgia, A Maresca, R Liguori, R Lodi, ZM Ahmed, et al., ..., JE Dallman. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat. Genet. 47:926-932 (2015). [PubMed]
L Abu-Safieh, M Alrashed, S Anazi, H Alkuraya, AO Khan, M Al-Owain, J Al-Zahrani, L Al-Abdi, M Hashem, S Al-Tarimi, M-A Sebai, A Shamia, MD Ray-Zack, M Nassan, ZN Al-Hassnan, Z Rahbeeni, S Waheeb, A Alkharashi, E Abboud, SAF Al-Hazzaa, FS Alkuraya. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 23:236-247 (2013). [PubMed]
GM Acland, GD Aguirre, J Ray, Q Zhang, TS Aleman, AV Cideciyan, SE Pearce-Kelling, V Anand, Y Zeng, AM Maguire, SG Jacobson, WW Hauswirth, J Bennett. Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet. 28:92-95 (2001). [PubMed]
GM Acland, K Ray, CS Mellersh, W Gu, AA Langston, J Rine, EA Ostrander, GD Aguirre. Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. Proc. Natl. Acad Sci. USA 95:3048-3053 (1998). [PubMed]
A Adato, H Kalinski, D Weil, H Chaib, M Korostishevsky, B Bonne-Tamir. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am. J. Hum. Genet. 65:261-265 (1999). [PubMed]
A Adato, S Vreugde, T Joensuu, N Avidan, R Hamalainen, O Belenkiy, T Olender, B Bonne-Tamir, E Ben-Asher, C Espinos, JM Millán, A-E Lehesjoki, JG Flannery, KB Avraham, S Pietrokovski, E-M Sankila, JS Beckmann, D Lancet. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur. J. Hum. Genet. 10:339-350 (2002). [PubMed]
A Adato, D Weil, H Kalinski, Y Pel-Or, H Ayadi, C Petit, M Korostishevsky, B Bonne-Tamir. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origin. Am. J. Hum. Genet. 61:813-821 (1997). [PubMed]
SA Agrawal, T Burgoyne, A Eblimit, J Bellingham, DA Parfitt, A Lane, R Nichols, C Asomugha, MJ Hayes, PM Munro, M Xu, K Wang, CE Futter, Y Li, R Chen, ME Cheetham. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum. Mol. Genet. 26:2667-2677 (2017). [PubMed]
GD Aguirre, V Baldwin, S Pearce-Kelling, K Narfstrom, K Ray, GM Acland. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol. Vis. 4:23 (1998). [PubMed]
ZM Ahmed, TJ Jaworek, GN Sarangdhar, L Zheng, K Gul, SN Khan, TB Friedman, RA Sisk, JR Bartles, S Riazuddin, S Riazuddin. Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J. Med. Genet. 55:479-488 (2018). [PubMed]
ZM Ahmed, S Riazuddin, J Ahmad, SL Bernstein, Y Guo, MF Sabir, P Sieving, S Riazuddin, AJ Griffith, TB Friedman, IA Belyantseva, ER Wilcox. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum. Mol. Genet. 12:3215-3223 (2003). [PubMed]
ZM Ahmed, S Riazuddin, SL Bernstein, Z Ahmed, S Khan, AJ Griffith, RJ Morell, TB Friedman, S Riazuddin, ER Wilcox. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69:25-34 (2001). [PubMed]
ZM Ahmed, S Riazuddin, SN Khan, PL Friedman, S Riazuddin, TB Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin. Genet. 75:86-91 (2009). [PubMed]
ZM Ahmed, TN Smith, S Riazuddin, T Makishima, M Ghosh, S Bokhari, PSN Menon, D Deshmukh, AJ Griffith, S Riazuddin, TB Friedman, ER Wilcox. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum. Genet. 110:527-531 (2002). [PubMed]
J Ahn, J Chiang, MB Gorin. Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy. Ophthalmic Genet. 41:386-389 (2020). [PubMed]
M Ajmal, MI Khan, K Neveling, YM Khan, M Azam, NK Waheed, CP Hamel, T Ben-Yosef, E De Baere, RK Koenekoop, RWJ Collin, R Qamar, FPM Cremers. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J. Med. Genet. 51:444-448 (2014). [PubMed]
M Akahori, K Tsunoda, Y Miyake, Y Fukuda, H Ishiura, S Tsuji, T Usui, T Hatase, M Nakamura, H Ohde, T Itabashi, H Okamoto, Y Takada, T Iwata. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am. J. Hum. Genet. 87:424-429 (2010). [PubMed]
N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, MS Zaki, H Sanchez, N Gupta, M Kabra, M Kara, T Ben-Omran, B Rosti, A Guemez-Gamboa, E Spencer, R Pan, N Cai, M Abdellateef, S Gabriel, J Halbritter, et al., ..., JG Gleeson. Mutations in CSPP1 lead to classical Joubert syndrome. Am. J. Hum. Genet. 94:80-86 (2014). [PubMed]
KN Alagramam, CL Murcia, HY Kwon, KS Pawlowski, CG Wright, RP Woychik. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat. Genet. 27:99-102 (2001). [PubMed]
KN Alagramam, H Yuan, MH Kuehn, CL Murcia, S Wayne, CRS Srisailpathy, RB Lowry, R Knaus, L Van Laer, FP Bernier, S Schwartz, C Lee, CC Morton, RF Mullins, A Ramesh, G Van Camp, GS Hagemen, RP Woychik, RJH Smith. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet. 10:1709-1718 (2001a). [PubMed]
MA Aldahmesh, M Al-Owain, F Alqahtani, S Hazzaa, FS Alkuraya. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol. Vis. 16:207-212 (2010). [PubMed]
MA Aldahmesh, Y Li, A Alhashem, S Anazi, H Alkuraya, M Hashem, AA Awaji, S Sogaty, A Alkharashi, S Alzahrani, SA Al Hazzaa, Y Xiong, S Kong, Z Sun, FS Alkuraya. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum. Mol. Genet. 23:3307-3315 (2014). [PubMed]
MA Aldahmesh, AO Khan, JY Mohamed, H Alkuraya, H Ahmed, S Bobis, S Al-Mesfer, FS Alkuraya. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J. Med. Genet. 48:597-601 (2011a). [PubMed]
MA Aldahmesh, JY Mohamed, HS Alkuraya, IC Verma, RD Puri, AA Alaiya, WB Rizzo, FS Alkuraya. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am. J. Hum. Genet. 89:745-750 (2011). [PubMed]
MA Aldahmesh, LA Safieh, H Alkuraya, A Al-Rajhi, H Shamseldin, M Hashem, F Alzahrani, AO Khan, F Alqahtani, Z Rahbeeni, M Alowain, H Khalak, S Al-Hazzaa, BF Meyer, FS Alkuraya. Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol. Vis. 15:2464-2469 (2009). [PubMed]
KA Aldinger, SJ Mosca, M Tétreault, JC Dempsey, GE Ishak, T Hartley, IG Phelps, RE Lamont, DR O'Day, D Basel, KW Gripp, L Baker, MJ Stephan, FP Bernier, KM Boycott, J Majewski, et al., ..., D Doherty. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am. J. Hum. Genet. 95:227-234 (2014). [PubMed]
MA Aldred, KL Dry, DM Sharp, DB Van Dorp, J Brown, JL Hardwick, DH Lester, FE Pryde, PW Teague, M Jay, AC Bird, B Jay, AF Wright. Linkage analysis in X-linked congenital stationary night blindness. Genomics 14:99-104 (1992). [PubMed]
MA Aldred, KL Dry, EB Knight-Jones, LJ Hardwick, PW Teague, DH Lester, J Brown, G Spowart, AD Carothers, JA Raeburn, AC Bird, AR Fielder, AF Wright. Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. Am. J. Hum. Genet. 55:916-922 (1994). [PubMed]
TS Aleman, AV Cideciyan, NJ Volpe, G Stevanin, A Brice, SG Jacobson. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp. Eye Res. 74:737-745 (2002). [PubMed]
TS Aleman, N Soumittra, AV Cideciyan, A Sumaroka, V Ramprasad, W Herrera, EA Windsor, SB Schwartz, RC Russell, AJ Roman, CF Inglehearn, G Kumaramanickavel, EM Stone, GA Fishman, SG Jacobson. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest. Ophthalmol. Vis. Sci. 50:5944-5954 (2009). [PubMed]
C Alexander, M Votruba, UEA Pesch, DL Thiselton, S Mayer, A Moore, M Rodriguez, U Kellner, B Leo-Kottler, G Auburger, SS Bhattacharya, B Wissinger. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26:211-215 (2000). [PubMed]
RR Ali, G-M Sarra, C Stephens, M de Alwis, JWB Bainbridge, PM Munro, S Fauser, MB Reichel, C Kinnon, DM Hunt, SS Bhattacharya, AJ Thrasher. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat. Genet. 25:306-310 (2000). [PubMed]
IA Aligianis, T Forshew, S Johnson, M Michaelides, CA Johnson, RC Trembath, DM Hunt, AT Moore, ER Maher. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J. Med. Genet. 39:656-660 (2002). [PubMed]
T Alitalo, TA Kruse, H Forsius, AW Eriksson, A de la Chapelle. Localization of the Åland Island eye disease locus to the pericentric region of the X chromosome by linkage analysis. Am. J. Hum. Genet. 48:31-38 (1991). [PubMed]
H Al-Kateb, JS Shimony, M Vineyard, L Manwaring, S Kulkarni, M Shinawi. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am. J. Med. Genet. Part A 161A:377-381 (2013). [PubMed]
R Allikmets. Simple and complex ABCR: genetic predisposition to retinal disease. Am. J. Hum. Genet. 67:793-799 (2000). [PubMed]
R Allikmets, AA Bergen, M Dean, RH Guymer, GS Hageman, CC Klaver, K Stefansson, BH Weber, Int. Age-Related Macular Degeneration Genetics Consortium. Geographic atrophy in age-related macular degeneration and TLR3. N. Engl. J. Med. 360:2252-2254 (2009). [PubMed]
R Allikmets, NF Shroyer, N Singh, JM Seddon, RA Lewis, PS Bernstein, A Peiffer, NA Zabriskie, Y Li, A Hutchinson, M Dean, JR Lupski, M Leppert. Mutation of the stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807 (1997). [PubMed]
R Allikmets, N Singh, H Sun, NF Shroyer, A Hutchinson, A Chidambaram, B Gerrard, L Baird, D Stauffer, A Peiffer, A Rattner, P Smallwood, Y Li, KL Anderson, A Lewis, J Nathans, M Leppert, M Dean, JR Lupski. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 15:236-246 (1997a). [PubMed]
A Al-Maawali, L Dupuis, S Blaser, E Héon, M Tarnopolsky, F Al-Murshedi, CR Marshall, T Paton, SW Scherer, FORGE Canada Consortium, J Roelofsen, ABP van Kuilenburg, R Mendoza-Londono. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur. J. Hum. Genet. 23:310-316 (2015). [PubMed]
M Al-Maghtheh, CF Inglehearn, TJ Keen, K Evans, AT Moore, M Jay, AC Bird, SS Bhattacharya. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum. Mol. Genet. 3:351-354 (1994). [PubMed]
M Al-Maghtheh, E Vithana, E Tattelin, M Jay, K Evans, T Moore, S Bhattacharya, CF Inglehearn. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype. Am. J. Hum. Genet. 59:864-871 (1996). [PubMed]
B Almoguera, S He, M Corton, P Fernandez-San Jose, F Blanco-Kelly, M López-Molina, B García-Sandoval, J Del Val, Y Guo, L Tian, X Liu, L Guan, RJ Torres, JG Puig, H Hakonarson, X Xu, B Keating, C Ayuso. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Orphanet J. Rare Dis. 9:190 (2014). [PubMed]
MR Altherr, JJ Wasmuth, MF Seldin, JH Nadeau, W Baehr, SJ Pittler. Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington Disease region (4p16.3). Genomics 12:750-754 (1992). [PubMed]
BV Alvarez, EN Vithana, Z Yang, AH Koh, K Yeung, V Yong, HJ Shandro, Y Chen, P Kolatkar, P Palasingam, K Zhang, T Aung, JR Casey. Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 48:3459-3468 (2007). [PubMed]
S Andréasson, V Ponjavic, M Abrahamson, B Ehinger, W Wu, R Fujita, M Buraczynska, A Swaroop. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am. J. Ophthalmol. 12:95-102 (1997). [PubMed]
DA Andres, MC Seabra, MS Brown, SA Armstrong, TE Smeland, FPM Cremers, JL Goldstein. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell 73:1091-1099 (1993). [PubMed]
C Angebault, P-O Guichet, Y Talmat-Amar, M Charif, S Gerber, L Fares-Taie, N Gueguen, F Halloy, D Moore, P Amati-Bonneau, G Manes, M Hebrard, B Bocquet, M Quiles, C Piro-Mégy, M Teigell, C Delettre, M Rossel, I Meunier, et al., ..., G Lenares. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies. Am. J. Hum. Genet. 97:754-760 (2015). [PubMed]
A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, L Marcia, W Höhne, G Cuccuru, G Fotia, M Deiana, M Marongiu, HT Atalay, S Inan, O El Assy, LM Smit, I Okur, K Boduroglu, GE Utine, E Kılıç, et al., ..., F Rutsch. Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Am. J. Hum. Genet. 99:236-245 (2016). [PubMed]
Y Anikster, R Kleta, A Shaag, WA Gahl, O Elpeleg. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 69:1218-1224 (2001). [PubMed]
S Annunen, J Körkkö, M Czarny, ML Warman, HG Brunner, H Kääriäinen, JB Mulliken, L Tranebjaerg, et al., ..., L Ala-Kokko. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am. J. Hum. Genet. 65:974-983 (1999). [PubMed]
M Ansar, RLP Santos-Cortez, MA Saqib, F Zulfiqar, K Lee, NM Ashraf, E Ullah, X Wang, S Sajid, FS Khan, M Amin-Ud-Din; Univ. Washington Center for Mendelian Genomics, JD Smith, J Shendure, MJ Bamshad, DA Nickerson, A Hameed, et al., ..., , SM Leal. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum. Genet. 134:941-950 (2015). [PubMed]
SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins, CC Leitch, J Chul Kim, AJ Ross, ER Eichers, TM Teslovich, AK Mah, RC Johnsen, JC Cavender, R Alan Lewis, MR Leroux, PL Beales, N Katsanis. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nat. 425:628-633 (2003). [PubMed]
C Antignac, CH Arduy, JS Beckmann, F Benessy, F Gros, M Medhioub, F Hildebrandt, J-L Dufier, C Kleinknecht, M Broyer, J Weisenbach, R Habib, D Cohen. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat. Genet. 3:342-345 (1993). [PubMed]
NC Arbour, J Zlotogora, RG Knowlton, S Merin A Rosenmann, AB Kanis, T Rokhlina, EM Stone, VC Sheffield. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum. Mol. Genet. 6:689-694 (1997). [PubMed]
MD Ardell, DL Bedsole, RV Schoborg, SJ Pittler. Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene. Gene 245:311-318 (2000). [PubMed]
K Arikawa, LL Molday, RS Molday, D Williams. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Bio. 116:659-667 (1992). [PubMed]
G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, DA Parfitt, A Lane, T Burgoyne, S Hull, KJ Carss, A Fiorentino, MJ Hayes, PM Munro, R Nicols, N Pontikos, GE Holder, UKIRDC, C Asomugha, C Asomugha, et al., ..., M Michael. Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 99:1305-1315 (2016). [PubMed]
G Arno, KJ Carss, S Hull, C Zihni, AG Robson, A Fiorentino, UK Inherited Retinal Disease Consortium, AJ Hardcastle, GE Holder, ME Cheetham, V Plagnol, NIHR Bioresource - Rare Disease Consortium, AT Moore, FL Raymond, et al., ..., AR Webster. Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration. Am. J. Hum. Genet. 100:334-342 (2017). [PubMed]
G Arno, GE Holder, C Chakarova, S Kohl, N Pontikos, A Fiorentino, V Plagnol, ME Cheetham, AJ Hardcastle, AR Webster, M Michaelides, UK Inherited Retinal Disease Consortium. Recessive retinopathy consequent on mutant G-protein β subunit 3 (GNB3). JAMA Ophthalmol. 134:924-927 (2016a). [PubMed]
HH Arts, D Doherty, SEC van Beersum, MA Parisi, SJF Letteboer, NT Gorden, TA Peters, T Märker, K Voesenek, A Kartono, H Ozyurek, FM Farin, HY Kroes, U Wolfrum, HG Brunner, FPM Cremers, IA Glass, NVAM Knoers, R Roepman. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 39:882-888 (2007). [PubMed]
M Asai-Coakwell, L March, XH Dai, M DuVal, I Lopez, CR French, J Famulski, E De Baere, PJ Francis, P Sundaresan, Y Sauvé, RK Koenekoop, FB Berry, WT Allison, AJ Waskiewicz, OJ Lehmann. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum. Mol. Genet. 22:1432-1442 (2013). [PubMed]
JJM Assink, NT Tijmes, JB ten Brink, R-J Oostra, FC Riemslag, PTVM de Jong, AAB Bergen. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. Am. J. Hum. Genet. 61:934-939 (1997). [PubMed]
LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, SJ Ohliger, S Riazuddin, RJ Morell, S Khan, et al., ..., WJ Kimberling. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet. 71:262-275 (2002). [PubMed]
Y Atiskova, S Bartsch, T Danyukova, E Becker, C Hagel, S Storch, U Bartsch. Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype. Sci. Rep. 9:14185 (2019). [PubMed]
I Audo, K Bujakowska, E Orhan, CM Poloschek, S Defoort-Dhellemmes, I Drumare, S Kohl, TD Luu, O Lecompte, E Zrenner, M-E Lancelot, A Antonio, A Germain, C Michiels, C Audier, M Letexier, J-P Saraiva, BP Leroy, FL Munier, et al., ..., C Zeitz. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am. J. Hum. Genet. 90:321-330 (2012). [PubMed]
I Audo, K Bujakowska, E Orhan, S El Shamieh, F Sennlaub, X Guillonneau, A Antonio, C Michiels, ME Lancelot, M Letexier, JP Saraiva, H Nguyen, TD Luu, T Léveillard, O Poch, H Dollfus, M Paques, O Goureau O, S Mohand-Saïd, SS Bhattacharya, JA Sahel, C Zeitz. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum. Mol. Genet. 23:491-501 (2013). [PubMed]
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, K Bujakowska, EF Nandrot, B Lorenz, M Preising, U Kellner, AB Renner, A Bernd, A Antonio, V Moskova-Doumanova, M-E Lancelot, CM Poloschek, I Drumare, et al., ..., C Zeitz. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am. J. Hum. Genet. 85:720-729 (2009). [PubMed]
I Audo, J-A Sahel, S Mohand-Saäd, M-E Lancelot, A Antonio, V Moskova-Doumanova, EF Nandrot, J Doumanov, I Barragan, G Antinolo, SS Bhattacharya, C Zeitz. EYS is a major gene for rod-cone dystrophies in France. Hum. Mutat. 31:E1406-E1435 (2010). [PubMed]
T Aung, L Ocaka, ND Ebenezer, AG Morris, M Krawczak, DL Thiselton, C Alexander, M Votruba, G Brice, AH Child, PJ Francis, RA Hitchings, OJ Lehmann, SS Bhattacharya. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum. Genet. 110:52-56 (2002). [PubMed]
N Auslender, D Sharon, AH Abbasi, HJ Garzozi, E Banin, T Ben-Yosef. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. Invest. Ophthalmol. Vis. Sci. 48:5431-5438 (2007). [PubMed]
A Avila-Fernandez, M Corton, KM Nishiguchi, N Muñoz-Sanz, B Benavides-Mori, F Blanco-Kelly, R Riveiro-Alvarez, B Garcia-Sandoval, C Rivolta, C Ayuso. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. Ophthalmology 119:2616-2621 (2012). [PubMed]
A Avila-Fernandez, R Perez-Carro, M Corton, MI Lopez-Molina, L Campello, A Garanto, L Fernandez-Sanchez, L Duijkers, MA Lopez-Martinez, R Riveiro-Alvarez, LR Da Silva, R Sanchez-Alcudia, E Martin-Garrido, N Reyes, et al., ..., C Ayusa. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum. Mol. Genet. 24:4037-4048 (2015). [PubMed]
R Ayala-Ramirez, F Graue-Wiechers, V Robredo, M Amato-Almanza, I Horta-Diez, JC Zenteno. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol. Vis. 12:1483-1489 (2006). [PubMed]
X Ayrignac, C Liauzun, G Lenaers, D Renard, P Amati-Bonneau, J de Sèze, H Dollfus, C Hamel, D Bonneau, P Labauge. OPA3-related autosomal dominant optic atrophy and cataract with ataxia and areflexia. Eur. Neurol. 68:108-110 (2012). [PubMed]
R Ayyagari, F Demirci, J Liu, E Bingham, H Stringham, L Kakuk, M Boehnke, M Gorin, J Richards, P Sieving. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 80:166-171 (2002). [PubMed]
R Ayyagari, LE Kakuk, CL Coats, EL Bingham, Y Toda, J Felius, PA Sieving. Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. Mol. Vis. 58:98-101 (1999). [PubMed]
R Ayyagari, Y Li, RJ Smith, MJ Pelias, JF Hejtmancik. Fine mapping of the Usher syndrome type 1C to chromosome 11p14 and identification of flanking markers by haplotype analysis. Mol.Vis. 1:2 (1995). [PubMed]
R Ayyagari, MNA Mandal, AJ Karoukis, L Chen, NC McLaren, M Lichter, DT Wong, PF Hitchcock, RC Caruso, SE Moroi, IH Maumenee, PA Sieving. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest. Ophthalmol. Vis. Sci. 46:3363-3371 (2005). [PubMed]
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R Ba-Abbad, M Leys, X Wang, C Chakarova, N Waseem, KJ Carss, FL Raymond, KM Bujakowska, EA Pierce, OA Mahroo, MD Mohamed, GE Holder, M Hummel, G Arno, AR Webster. Clinical features of a retinopathy associated with a dominant allele of the RGR gene. Invest. Ophthalmol. Vis. Sci. 59:4812-4820 (2018). [PubMed]
L Baala, S Audollent, J Martinovic, C Ozilou, M-C Babron, S Sivanandamoorthy, S Saunier, R Salomon, M Gonzales, E Rattenberry, C Esculpavit, A Toutain, C Moraine, P Parent, P Marcorelles, M-C Dauge, J Roume, M Le Merrer, et al., ..., T Attié-Bitach. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am. J. Hum. Genet. 81:170-179 (2007). [PubMed]
JL Badano, SJ Ansley, CC Leitch, RA Lewis, JR Lupski, N Katsanis. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am. J. Hum. Genet. 72:650-658 (2003). [PubMed]
I Bader, O Brandau, H Achatz, E Apfelstedt-Sylla, M Hergersberg, B Lorenz, B Wissinger, B Wittwer, G Rudolph, A Meindl, T Meitinger. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest. Ophthalmol. Vis. Sci. 44:1458-1463 (2003). [PubMed]
S Baker, C Booth, C Fillman, M Shapiro, MP Blair, JC Hyland, L Ala-Kokko. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am. J. Med. Genet. A 155A:1668-1672 (2011). [PubMed]
J Balciuniene, K Johansson, O Sandgren, L Wachtmeister, G Holmgren, K Forsman. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics 30:281-286, (1995). [PubMed]
D Bandah-Rozenfeld, RWJ Collin, E Banin, LI van den Born, KLM Coene, AM Siemiatkowska, L Zelinger, MI Khan, DJ Lefeber, I Erdinest, F Testa, F Simonelli, K Voesenek, EAW Blokland, TM Strom, CCW Klaver, R Qamar, et al., ..., AI den Hollander. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87:199-208 (2010). [PubMed]
D Bandah-Rozenfeld, L Mizrahi-Meissonnier, C Farhy, A Obolensky, I Chowers, J Pe'er, S Merin, T Ben-Yosef, R Ashery-Padan, E Banin, D Sharon. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87:382-391 (2010a). [PubMed]
P Banerjee, PW Kleyn, JA Knowles, CA Lewis, BM Ross, E Parano, SG Kovats, JJ Lee, GK Penchaszadeh, J Ott, SG Jacobson, TC Gilliam. TULIP1 mutation in two recessive extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat. Genet. 18:177-179 (1998). [PubMed]
P Banerjee, CA Lewis, PW Kleyn, YY Shugart, BM Ross, GKPenchaszadeh, J Ott, SG Jacobson, TC Gilliam, JA Knowles. Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics 48:171-177 (1998a). [PubMed]
F Barbet, S Gerber, S Hakiki, I Perrault, S Hanein, D Ducroq, G Tanguy, J-L Dufier, A Munnich, J-M Rozet, J Kaplan. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur. J. Hum. Genet. 11: 966-971 (2003). [PubMed]
F Barbet, S Hakiki, C Orssaud, S Gerber, I Perrault, S Hanein, D Ducroq, J-L Dufier, A Munnich, J Kaplan, J-M Rozet. A third locus for dominant optic atrophy on chromosome 22q. J. Med. Genet. 42:e1 (2005). [PubMed]
S Bardien, N Ebenezer, J Greenberg, CF Inglehearn, L Bartmann, R Goliath, P Beighton, R Ramesar, SS Bhattacharya. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum. Mol. Genet. 4:1459-1462 (1995). [PubMed]
S Bardien-Kruger, J Greenberg, B Tubb, J Bryan, L Queimado, M Lovett, RS Ramesar. Refinement of the RP17 locus for autosomal dominant retinitis rigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. Eur. J. Hum. Genet. 7:332-338 (1999). [PubMed]
C Bareil, CP Hamel, V Delague, B Arnaud, J Demaille, M Claustres. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum. Genet. 108:328-334 (2001). [PubMed]
I Barragán, MM Abd El-Aziz, S Borrego, MF El-Ashry, C O'Driscoll, SS Bhattacharya, G Antiñolo. Linkage validation of RP25 using the 10K GeneChip array and further refinement of the locus by new linked families. Ann. Hum. Genet. 42:454-462 (2008). [PubMed]
A Barrientos, J Casademont, A Saiz, F Cardellach, V Volpini, A Solans, E Tolosa, A Urbano-Márquez, X Estivill, V Nunes. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am. J. Hum. Genet. 58:963-970 (1996). [PubMed]
A Barrientos, V Volpini, J Casademont, D Genis, JM Manzanares, I Ferrer, J Corral, F Cardellach, A Urbano-Márquez, X Estivill, V Nunes. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest. 97:1570-1576 (1996a). [PubMed]
RA Bascom, J Garcia-Heras, CL Hsieh, DS Gerhard, C Jones, U Francke, HF Willard, DH Ledbetter, RR McInnes. Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. Am. J. Hum. Genet. 51:1028-1035 (1992). [PubMed]
RA Bascom, L Liu, JR Heckenlively, EM Stone, RR McInnes. Mutation analysis of the ROM1 gene in retinitis pigmentosa. Hum. Mol. Genet. 4:1895-1902 (1995). [PubMed]
RA Bascom, L Liu, P Humphries, GA Fishman, JC Murray, RR McInnes. Polymorphisms and rare sequence variants at the ROM1 locus. Hum. Mol. Genet. 11:1975-1977 (1993). [PubMed]
RA Bascom, S Manara, L Collins, RS Molday, VI Kalnins, RR McInnes. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8:1171-1184 (1992a). [PubMed]
RA Bascom, K Schappert, RR McInnes. Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation. Hum. Mol. Genet. 4:385-391 (1993a). [PubMed]
JB Bateman, I Klisak, T Kojis, T Mohandas, RS Sparkes, TLi, ML Applebury, C Bowes, DB Farber. Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16. Genomics 12:601-603 (1992). [PubMed]
Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 82:949-957 (1995). [PubMed]
M Bayés, M Giordano, S Balcells, D Grinberg, L Vilageliu, I Martínez, C Ayuso, J Benítez, MA Ramos-Arroyo, P Chivelet, T Solans, D Valverde, S Amselem, M Goossens, M Baiget, R Gonzàlez-Duarte, C Besmond. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal dominant recessive retinitis pigmentosa. Hum. Mutat. 5:228-234 (1995). [PubMed]
M Bayés, B Goldaracena, A Martínez-Mir, MI Iragui-Madoz, T Solans, P Chivelet, E Bussaglia, MA Ramos-Arroyo, M Baiget, L Vilageliu, S Balcells, R Gonzàlez-Duarte, D Grinberg. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J. Med. Genet. 35:141-145 (1998). [PubMed]
PL Beales, N Katsanis, RA Lewis, SJ Ansley, N Elcioglu, J Raza, MO Woods, JS Green, PS Parfrey, WS Davidson, JR Lupski. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am. J. Hum. Genet. 68:606-616 (2001). [PubMed]
PL Beales, AM Warner, GA Hitman, R Thakker, FA Flinter. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J. Med. Genet 34:92-98 (1997). [PubMed]
L Beaufrère, S Tuffery, C Hamel, B Arnaud, JJ Demaille, M Claustres. A novel mutation (S558X) causing choroideremia. Hum. Mutat. 4:395 (1996). [PubMed]
NT Bech-Hansen, BJ Moore, WG Pearce. Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. Genomics 12:409-411 (1992). [PubMed]
NT Bech-Hansen, MJ Naylor, TA Maybaum, WG Pearce, B Koop, GA Fishman, M Mets, MA Musarella, KM Boycott. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat. Genet. 19:264-267 (1998). [PubMed]
NT Bech-Hansen, MJ Naylor, TA Maybaum, RL Sparkes, B Koop, DG Birch, AAB Bergen, CFM Prinsen, RC Polomeno, A Gal, AV Drack, MA Musarella, SG Jacobson, RSL Young, RG Weleber. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat. Genet. 26:319-323 (2000). [PubMed]
BB Beck, JB Phillips, MP Bartram, J Wegner, M Thoenes, A Pannes, J Sampson, R Heller, H Göbel, F Koerber, A Neugebauer, A Hedergott, G Nürnberg, P Nürnberg, H Thiele, J Altmüller, MR Toliat, S Staubach, KM Boycott, et al. , ..., HJ Bolz. Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum. Mutat. 35:1153-1162 (2014). [PubMed]
RR Bellone, SA Brooks, L Sandmeyer, BA Murphy, G Forsyth, S Archer, E Bailey, B Grahn. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). Genetics 179:1861-1870 (2008). [PubMed]
P Benaglio, TL McGee, LP Capelli, S Harper, EL Berson, C Rivolta. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Hum. Mutat. 32:E2246-E2258 (2011). [PubMed]
A Benomar, L Krols, G Stevanin, G Cancel, E LeGuern, G David, H Ouhabi, J-J Martin, A Dürr, A Zaim, N Ravisé, C Busque, C Penet, N Van Regemorter, J Weinssenbach, M Yahyaoui, T Chkilli, Y Agid, C Van Broeckhoven, A Brice. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat. Genet. 10:84-88 (1995). [PubMed]
AAB Bergen, F Meire, J ten Brink, EJM Schuurman, G-JB van Ommen, JW Delleman. Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. Genomics 18:463-464 (1993). [PubMed]
AAB Bergen, AJLG Pinckers. Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. Am. J. Hum. Genet. 60:1468-1473 (1997). [PubMed]
AAB Bergen, AS Plomp, EJ Schuurman, S Terry, M Breuning, H Dauwerse, J Swart, M Kool, S van Soest, F Baas, JB ten Brink, PTVM de Jong. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat. Genet. 25:228-231 (2000). [PubMed]
AAB Bergen, JB ten Brink, F Riemslag, EJM Schuurman, N Tijmes. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. Hum. Mol. Genet. 5:931-935 (1995). [PubMed]
AAB Bergen, MJ van Schooneveld, U Orth. Multipoint linkage analysis in X-linked juvenile retinoschisis. Clin. Genet. 43:113-116 (1993a). [PubMed]
W Berger, A Meindl, TJR van de Pol, FPM Cremers, HH Ropers, et al., ..., T Meitinger. Isolation of a candidate gene for Norrie disease by positional cloning. Nat. Genet. 1:199-203 (1992). [PubMed]
W Berger, D van de Pol, M Warburg, A Gal, L Bleeker-Wagemakers, H de Silva, A Medindl, T Meitinger, F Cremers, H-H Ropers. Mutations in the candidate gene for Norrie disease. Hum. Mol. Genet. 1:461-465 (1992a). [PubMed]
W Berger, G van Duijnhoven, A Pinckers, A Smits, HH Ropers, F Cremers. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB). Hum. Genet. 95:67-70 (1995). [PubMed]
IN Bespalova, G Van Camp, S J H Bom, DJ Brown, K Cryns, AT DeWan, AE Erson, K Flothmann, HP Kunst, P Kurnool, TA Sivakumaran, CW Cremers, SM Leal, M Burmeister, MM Lesperance. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum. Mol. Genet. 10:2501-2508 (2001). [PubMed]
DAR Bessant, AM Payne, KP Mitton, Q-L Wang, PK Swain, C Plant, AC Bird, DJ Zack, A Swaroop, SS Bhattacharya. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat. Genet. 21:355-356 (1999). [PubMed]
G Bhattacharya, C Miller, WJ Kimberling, MM Jablonski, D Cosgrove. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear. Res. 163:1-11 (2002). [PubMed]
SS Bhattacharya, AF Wright, JF Clayton, WH Price, CI Phillips, CME McKeown, M Jay, AC Bird, PL Pearson, EM Southern, HJ Evans. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253-255 (1984). [PubMed]
SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, RA Bayoumi, MS Zaki, A Abdel-Aleem, RO Rosti, H Kayserili, D Swistun, LC Scott, E Bertini, E Boltshauser, E Fazzi, L Travaglini, SJ Field, S Gayral, et al., ..., JG Gleeson. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-1036 (2009). [PubMed]
P Biswas, VRM Chavali, G Agnello, E Stone, C Chakarova, JL Duncan, C Kannabiran, M Homsher, SS Bhattacharya, MA Naeem, A Kimchi, D Sharon, T Iwata, S Riazuddin, GB Reddy, JF Hejtmancik, G Georgiou, SA Riazuddin, R Ayyagari. A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Hum. Mol. Genet. 25:2483-2497 (2016). [PubMed]
M Bitner-Glindzicz, KJ Lindley, P Rutland, D Blaydon, VV Smith, PJ Milla, K Hussain, J Furth-Lavi, KE Cosgrove, RM Shepherd, PD Barnes, RE O'Brien, PA Farndon, J Sowden, X-Z Liu, MJ Scanlan, S Malcolm, MJ Dunne, A Aynsley-Green, B Glaser. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat. Genet. 26:56-60 (2000). [PubMed]
GCM Black, R Perveen, R Bonshek, M Cahill, J Clayton-Smith, IC Lloyd, D McLeod. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum. Mol. Genet. 11:2021-2035 (1999). [PubMed]
GCM Black, R Perveen, W Wiszniewski, CL Dodd, D Donnai, D McLeod. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmol. 106:2074-2081 (1999a). [PubMed]
SH Blanton, JR Heckenlively, AW Cottingham, J Friedman, LA Sadler, M Wagner, LH Friedman, SP Daiger. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11:857-869 (1991). [PubMed]
H Bolz, I Ebermann, A Gal. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. Mol. Vis. 11:929-933 (2005). [PubMed]
H Bolz, B von Brederlow, A Ramírez, EC Bryda, K Kutsche, H Gerd Nothwang, M Seeliger, M del C-S Cabrera, M Caballeró Vila, O Pelaez Molina, A Gal, CX Kubisch. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet. 27:108-112 (2001). [PubMed]
D Bonneau, E Souied, S Gerber, J-M Rozet, E D'Haens, H Journel, G Plessis, J Weissenbach, A Munnich, J Kaplan. No evidence of genetic heterogeneity in dominant optic atrophy. J. Clin. Genet. 32:951-953 (1995). [PubMed]
B Bonné-Tamir, M Korostishevsky, H Kalinsky, E Seroussi, R Beker, S Weiss, V Godel. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred. Genomics 20:36-42 (1994). [PubMed]
CA Bonte, GL Matthijs, JJ Cassiman, AM Leys. Macular pattern dystrophy in patients with deafness and diabetes. Retina 17:216-221 (1997). [PubMed]
CJF Boon, BJ Klevering, CB Hoyng, MN Zonneveld-Vrieling, SB Nabuurs, E Blokland, FPM Cremers, AI den Hollander. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am. J. Hum. Genet. 82:516-523 (2008). [PubMed]
CJF Boon, BJ Klevering, FPM Cremers, MN Zonneveld-Vrieling, T Theelen, AI Den Hollander, CB Hoyng. Central areolar choroidal dystrophy. Ophthalmology 116:771-782 (2009). [PubMed]
JM Bork, LM Peters, S Riazuddin, SL Bernstein, ZM Ahmed, SL Ness, R Polomeno, A Ramesh, M Schloss, CRS Srisailpathy, S Wayne, S Bellman, D Desmukh, Z Ahmed, SN Khan, VM Der Kaloustian, XC Li, A Lalwani, S Riazuddin, et al., ..., RJ Morell. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am. J. Hum. Genet. 68:26-37 (2001). [PubMed]
DGM Bosch, FN Boonstra, C Gonzaga-Jauregui, M Xu, J de Ligt, S Jhangiani, W Wiszniewski, DM Muzny, HG Yntema, R Pfundt, LELM Vissers, L Spruijt, EAW Blokland, C-A Chen, Baylor-Hopkins Ctr Mendelian Genomics, RA Lewis, et al., ..., CP Schaaf. NR2F1 mutations cause optic atrophy with intellectual disability. Am. J. Hum. Genet. 94:303-309 (2014). [PubMed]
C Bowes, T Li, M Danciger, LC Baxter, ML Applebury, DB Farber. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature 347:677-680 (1990). [PubMed]
SJ Bowne, SP Daiger, MM Hims, MM Sohocki, KA Malone, AB McKie, JR Heckenlively, DG Birch, CF Inglehearn, SS Bhattacharya, A Bird, LS Sullivan. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11:2121-2128 (1999). [PubMed]
SJ Bowne, SP Daiger, KA Malone, JR Heckenlively, A Kennan, P Humphries, D Hughbanks-Wheaton, DG Birch, Q Liu, EA Pierce, J Zuo, Q Huang, DD Donovan, LS Sullivan. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol. Vis. 9:129-137 (2003). [PubMed]
SJ Bowne, MM Humphries, LS Sullivan, PF Kenna, LC Tam, AS Kiang, M Campbell, GM Weinstock, DC Koboldt, L Ding, RS Fulton, EJ Sodergren, D Allman, S Millington-Ward, A Palfi, A McKee, SH Blanton, S Slifer, I Konidari, GJ Farrar, SP Daiger, P Humphries. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur. J. Hum. Genet. 20:1-8 (2011). [PubMed]
SJ Bowne, LS Sullivan, SH Blanton, CL Cepko, S Blackshaw, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11:559-568 (2002). [PubMed]
SJ Bowne, LS Sullivan, SE Mortimer, L Hedstrom, J Zhu, CJ Spellicy, AI Gire, D Hughbanks-Wheaton, DG Birch, RA Lewis, JR Heckenlively, SP Daiger. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 47:34-42 (2006). [PubMed]
KM Boycott, TA Maybaum, MJ Naylor, RG Weleber, J Robitaille, Y Miyake, AAB Bergen, ME Pierpont, WG Pearce, NT Bech-Hansen. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum. Genet. 108:91-97 (2001). [PubMed]
KM Boycott, WG Pearce, MA Musarella, RG Weleber, TA Maybaum, DG Birch, Y Miyake, RS Young, NT Bech-Hansen. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am. J. Hum. Genet. 62:865-87 (1998). [PubMed]
JP Boylan, AF Wright. Identification of a novel protein interacting with RPGR. Hum. Mol. Genet. 9:2085-2093 (2000). [PubMed]
C Brandl, HL Schulz, P Charbel Issa, J Birtel, R Bergholz, C Lange, C Dahlke, D Zobor, BHF Weber, H Stöhr. Mutations in the genes for interphotoreceptor matrix proteoglycans, IMPG1 and IMPG2, in patients with vitelliform macular lesions. Genes 8:170 (2017). [PubMed]
K Branham, M Othman, M Brumm, AJ Karoukis, P Atmaca-Sonmez, BM Yashar, SB Schwartz, NB Stover, K Trzupek, D Wheaton, B Jennings, ML Ciccarelli, KT Jayasundera, RA Lewis, D Birch, J Bennett, PA Sieving, S Andreasson, et al., ..., A Swaroop. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest. Ophthalmol. Vis. Sci. 53:8232-8237 (2012). [PubMed]
N Braverman, G Steel, C Obie, A Moser, H Moser, SJ Gould, D Valle. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat. Genet. 15:369-376 (1997). [PubMed]
C Bredrup, S Saunier, MM Oud, T Fiskerstrand, A Hoischen, D Brackman, SM Leh, M Midtbø, E Filhol, C Bole-Feysot, P Nitschké, C Gilissen, OH Haugen, J-SF Sanders, I Stolte-Dijkstra, DA Mans, EJ Steenbergen, BCJ Hamel, et al., ..., HH Arts. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 89:634-643 (2011). [PubMed]
DM Brown, RA Graemiger, M Hergersberg, A Schnizel, EP Messemer, G Niemeyer, SA Schneeberger, LM Streb, CM Taylor, AE Kimura, TA Weingeist, VC Sheffield, EM Stone. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch. Ophthalmol. 113:671-675 (1995). [PubMed]
J Brown, JH Fingert, CM Taylor, M Lake, VC Sheffield, EM Stone. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch. Ophthalmol. 115:95-99 (1997a). [PubMed]
MD Brown, F Sun, DC Wallace. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11777 or 14484 mutations on a mtDNA lineage. Am. J. Hum. Genet. 60:381-387 (1997). [PubMed]
MD Brown, AS Voljavec, MT Lott, I MacDonald, DC Wallace. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J. 6:2791-2799 (1992). [PubMed]
EA Bruford, R Riise, PW Teague, K Porter, KL Thomson, AT Moore, M Jay, M Warburg, A Schinzel, N Tommerup, K Tornqvist, T Rosenberg, M Patton, DC Mansfield, AF Wright. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 41:93-99 (1997). [PubMed]
HG Brunner, SE van Beersum, ML Warman, BR Olsen, HH Ropers, EC Mariman. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum. Mol. Genet. 3:1561-1564 (1995). [PubMed]
K Bujakowska, C Maubaret, CF Chakarova, N Tanimoto, SC Beck, E Fahl, MM Humphries, PF Kenna, E Makarov, O Makarova, F Paquet-Durand, PA Ekström, T van Veen, T Leveillard, P Humphries, MW Seeliger, SS Bhattacharya. Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest. Ophthalmol. Vis. Sci. 50:5927-5933 (2009). [PubMed]
KM Bujakowska, Q Zhang, AM Siemiatkowska, Q Liu, E Place, MJ Falk, M Consugar, M-E Lancelot, A Antonio, C Lonjou, W Carpentier, S Mohand-Saïd, AI den Hollander, FPM Cremers, BP Leroy, X Gai, JA Sahel, LI van den Born, RW Collin, C Zeitz, I Audo, EA Pierce. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum. Mol. Genet. 24:230-242 (2015). [PubMed]
M Buraczynska, W Wu, R Fujita, K Buraczynska, E Phelps, S Andréasson, J Bennett, DG Birch, GA Fishman, DR Hoffman, G Inana, SG Jacobson, MA Musarella, PA Sieving, A Swaroop. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am. J. Hum. Genet. 61:1287-1292 (1997). [PubMed]
R Burgess, ID Millar, BP Leroy, JE Urquhart, IM Fearon, E De Baere, PD Brown, AG Robson, GA Wrigh, P Kestelyn, GE Holder, AR Webster, FDC Manson, GC Black. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am. J. Hum. Genet. 82:19-31 (2008). [PubMed]
MSI Burstedt, O Sandgren, G Holmgren, K Forsman-Semb. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest. Ophthalmol. Vis. Sci. 40:995-1000 (1999). [PubMed]
A Bushehri, D Zare-Abdollahi, A Alavi, A Dehghani, M Mousavimikala, HR Khorram Khorshid. Identification of PROS1 as a novel candidate gene for juvenile retinitis pigmentosa. Int. J. Mol. Cell. Med. 8:179-190 (2019). [PubMed]
[ Top of Page | Home Page ]
M Cadieux-Dion, M Turcotte-Gauthier, A Noreau, C Martin, C Meloche, M Gravel, CA Drouin, GA Rouleau, DK Nguyen, P Cossette. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 71:470-475 (2014). [PubMed]
A Camuzat, H Dolfus, J-M Rozet, S Gerber, D Bonneau, M Bonnemaison, M-L Braird, J-L Dufier, I Ghazi, C Leowski, J Weissenbach, J Frezal, A Munnich, J Kaplan. A gene for Leber's congenital amaurosis maps to chromosome 17p. Hum. Mol. Genet. 4:1447-1452 (1995). [PubMed]
A Camuzat, J-M Rozet, H Dollfus, S Gerber, I Perrault, D Bonneau, I Ghazi, J-L Dufier, A Munnich, J Kaplan. Evidence for genetic heterogeneity in Leber's congenital amaurosis and fine mapping of LCA1 to chromosome 17p13. Invest. Ophthalmol. Vis. Sci. 37:998 (1996). [PubMed]
AE Canfield, KD Hadfield, CF Rock, EC Wylie, FL Wilkinson. HtrA1: a novel regulator of physiological and pathological matrix mineralization? Biochem. Soc. Trans. 35:669-671 (2007). [PubMed]
V Carelli, S Schimpf, N Fuhrmann, ML Valentino, C Zanna, L Iommarini, M Papke, S Schaich, S Tippmann, B Baumann, P Barboni, L Longanesi, M Rugolo, A Ghelli, M Alavi, R Youle, L Bucchi, R Carroccia, MP Giannoccaro, C Tonon, et al., ..., B Wissinger. A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. Hum. Mol. Genet. 20:1893-1905 (2011). [PubMed]
G Caridi, L Murer, R Bellantuono, P Sorino, DA Caringella, R Gusmano, GM Ghiggeri. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am. J. Kidney Dis. 32:1059-1062 (1998). [PubMed]
R Carmi, T Rokhlina, AE Kwitek-Black, K Elbedour, D Nishimura, EM Stone, VC Sheffield. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum. Genet. 4:9-13 (1995). [PubMed]
H Chäib, J Kaplan, S Gerber, C Vincent, H Ayadi, R Slim, A Munnich, J Weissenbach, C Petit. A newly identified locus for Usher syndrome type 1, USH1E, maps to chromosome 21q21. Hum. Mol. Genet. 6:27-31 (1997). [PubMed]
CF Chakarova, MM Hims, H Bolz, L Abu-Safieh, RJ Patel, MG Papaioannou, CF Inglehearn, TJ Keen, C Willis, AT Moore, T Rosenberg, AR Webster, AC Bird, A Gal, D Hunt, EN Vithana, SS Bhattacharya. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11:87-92 (2002). [PubMed]
CF Chakarova, H Khanna, AZ Shah, SB Patil, T Sedmak, CA Murga-Zamalloa, MG Papaioannou, K Nagel-Wolfrum, I Lopez, P Munro, M Cheetham, RK Koenekoop, RM Rios, K Matter, U Wolfrum, A Swaroop, SS Bhattacharya. TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum. Mol. Genet. 20:975-987 (2011). [PubMed]
CF Chakarova, MG Papaioannou, H Khanna, I Lopez, N Waseem, A Shah, T Theis, J Friedman, C Maubaret, K Bujakowska, B Veraitch, MM Abd El-Aziz, DQ Prescott, SK Parapuram, WA Bickmore, PMG Munro, A Gal, CP Hamel, et al., ..., SS Bhattacharya. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am. J. Hum. Genet. 81:1098-1103 (2007). [PubMed]
M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, TW Hurd, W Zhou, A Cluckey, HY Gee, G Ramaswami, CJ Hong, BA Hamilton, I Cervenka, RS Ganji, V Bryja, HH Arts, J van Reeuwijk, MM Oud, SJ Letteboer, et al., ..., F Hildebrandt. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533-548 (2012). [PubMed]
PK Chakraborty, K Schmitz-Abe, EK Kennedy, H Mamady, T Naas, D Durie, DR Campagna, A Lau, AK Sendamarai, DH Wiseman, A May, S Jolles, P Connor, C Powell, MM Heeney, PJ Giardina, RJ Klaassen, C Kannengiesser, I Thuret, et al., ..., MD Fleming. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124:2867-2871 (2014). [PubMed]
B Chang, NL Hawes, RE Hurd, MT Davisson, JR Heckenlely. Retinal degeneration mutants in the mouse. Vis. Res. 42:517-525 (2002). [PubMed]
B Chang, JR Heckenlively, NL Hawes, TH Roderick. New mouse primary retinal degeneration (rd-3). Genomics 16:45-49 (1993). [PubMed]
B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, H Cheng, A Scott, RE Hurd, JA Sayer, EA Otto, M Attanasio, JF O'Toole, G Jin, C Shou, F Hildebrandt, DS Williams, JR Heckenlively, A Swaroop. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 15:1847-1857 (2006). [PubMed]
M Charif, A Roubertie, S Salime, S Mamouni, C Goizet, CP Hamel, G Lenaers. A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. Front. Genet. 6:311 (2015). [PubMed]
M Charif, YC Wong, S Kim, A Guichet, C Vignal, X Zanlonghi, P Bensaid, V Procaccio, D Bonneau, P Amati-Bonneau, P Reynier, D Krainc, G Lenaers. Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy. Mol. Neurodegener. 16:12 (2021). [PubMed]
C-K Chen, ME Burns, W He, TG Wensel, DA Baylor, MI Simon. Slowed recovery of rod photoresponse in mice lacking the GTPase accelerating protein RGS9-1. Nature 403:557-560 (2000). [PubMed]
X Chen, Y Liu, X Sheng, POS Tam, K Zhao, X Chen, W Rong, Y Liu, X Liu, X Pan, LJ Chen, Q Zhao, D Vollrath, CP Pang, C Zhao. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 23:2926-2939 (2014). [PubMed]
XN Chen, JR Korenberg, M Jiang, D Shen, HK Fong. Localization of the human RGR opsin gene to chromosome 10q23. Hum. Genet. 97:720-722 (1996). [PubMed]
Z-Y Chen, EM Battinelli, A Fiedler, S Bundey, K Sims, XO Breakefield, IW Craig. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat. Genet. 5:180-182 (1993). [PubMed]
Z-Y Chen, EM Battinelli, RW Hendriks, JF Powell, H Middleton-Price, KB Sims, XO Breakefield, IW Craig. Norrie disease gene: characterization of deletions and possible function. Genomics 16:533-535 (1993a). [PubMed]
Z-Y Chen, RW Hendriks, MA Jobling, JF Powell, XO Breakefield, KB Sims, IW Craig. Isolation and characterization of a candidate gene for Norrie disease. Nat. Genet. 1:204-208 (1992). [PubMed]
AP Chiang, JS Beck, H-J Yen, MK Tayeh, TE Scheetz, RE Swiderski, DY Nishimura, TA Braun, K-Y Kim, J Huang, K Elbedour, R Carmi, DC Slusarski, TL Casavant, EM Stone, VC Sheffield. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc. Natl. Acad. Sci. USA 103:6287-6292 (2006). [PubMed]
AP Chiang, D Nishimura, C Searby, K Elbedour, R Carmi, AL Ferguson, J Secrist, T Braun, T Casavant, EM Stone, VC Sheffield. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am. J. Hum. Genet. 75:475-484 (2004). [PubMed]
P-W Chiang, J Wang, Y Chen, Q Fu, J Zhong, Y Chen, X Yi, R Wu, H Gan, Y Shi, Y Chen, C Barnett, D Wheaton, M Day, J Sutherland, E Heon, RG Weleber, LAR Gabriel, P Cong, K Chuang, S Ye, JMF Sallum, M Qi. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat. Genet. 44:972-974 (2012). [PubMed]
KHL Ching, SK Westaway, J Gitschier, JJ Higgins, SJ Hayflick. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology 58:1673-1674 (2002). [PubMed]
AV Cideciyan, F Haeseleer, RN Fariss, TS Aleman, GF Jang, CL Verlinde, MF Marmor, SG Jacobson, K Palczewski. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Vis. Neurosci. 17:667-678 (2000). [PubMed]
AV Cideciyan, X Zhao, L Nielsen, SC Khani, SG Jacobson, K Palczewski. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proc. Natl. Acad. Sci. USA 95:328-333 (1998). [PubMed]
KLM Coene, R Roepman, D Doherty, B Afroze, HY Kroes, SJF Letteboer, LH Ngu, B Budny, E van Wijk, NT Gorden, M Azhimi, C Thauvin-Robinet, JA Veltman, M Boink, T Kleefstra, FPM Cremers, H van Bokhoven, APM de Brouwer. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am. J. Hum. Genet. 85:465-481 (2009). [PubMed]
B Cogné, X Latypova, LDS Senaratne, L Martin, DC Koboldt, G Kellaris, L Fievet, G Le Meur, D Caldari, D Debray, M Nizon, E Frengen, SJ Bowne, 99 Lives Consortium, EL Cadena, EL Cadena, SP Daiger, KM Bujakowska, EA Pierce, et al., ...,B Isidor. Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy. Am. J. Hum. Genet. 106:893-904 (2020). [PubMed]
D Colavito, V Maritan, A Suppiej, E Del Giudice, M Mazzarolo, S Miotto, S Farina, M Dalle Carbonare, S Piermarocchi, A Leon. Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene. Biomed. Rep. 7:451-454 (2017). [PubMed]
DA Collier, TG Barrett, D Curtis, A Macleod, MJ Arranz, JA Maassen, S Bundey. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am. J. Hum. Genet. 59:855-863 (1996). [PubMed]
GB Collin, JD Marshall, CF Boerkoel, AV Levin, R Weksberg, J Greenberg, JL Michaud, JK Naggert, PM Nishina. Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum. Genet. 105:474-479 (1999). [PubMed]
GB Collin, JD Marshall, LR Cardon, PM Nishina. Homozygosity mapping of Alström syndrome to chromosome 2p. Hum. Mol. Genet. 6:213-219 (1997). [PubMed]
RWJ Collin, KW Littink, BJ Klevering, LI van den Born, RK Koenekoop, MN Zonneveld, EAW Blokland, TM Strom, CB Hoyng, AI den Hollander, FPM Cremers. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83:594-603 (2008). [PubMed]
RWJ Collin, K Nikopoulos, M Dona, C Gilissen, A Hoischen, FN Boonstra, JA Poulter, H Kondo, W Berger, C Toomes, T Tahira, LR Mohn, EA Blokland, L Hetterschijt, M Ali, JM Groothuismink, L Duijkers, CF Inglehearn, et al., ..., FPM Cremers. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc. Natl. Acad. Sci. USA 110:9856-9861 (2013). [PubMed]
RWJ Collin, C Safieh, KW Littink, SA Shalev, HJ Garzozi, L Rizel, AH Abbasi, FPM Cremers, AI den Hollander, BJ Klevering, T Ben-Yosef. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 86:783-788 (2010). [PubMed]
C Collins, G Hutchinson, D Kowbel, O Riess, B Weber, MR Hayden. The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain. Genomics 13:698-704 (1992). [PubMed]
GJ Connell, R Bascom, L Molday, D Reid, RR McInnes, RS Molday. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. Natl. Acad. Sci. USA 38:723-726 (1991). [PubMed]
GJ Connell, RS Molday. Molecular cloning, primary structure and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochem. 29:4691-4698 (1990). [PubMed]
I Conte, KD Hadfield, S Barbato, S Carrella, M Pizzo, RS Bhat, A Carissimo, M Karali, LF Porter, J Urquhart, S Hateley, J O'Sullivan, FDC Manson, SCF Neuhauss, S Banfi, GCM Black. MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc. Natl. Acad. Sci. USA 112:E3236-E3245 (2015). [PubMed]
I Conte, M Lestingi, A den Hollander, G Alfano, C Ziviello, M Pugliese, D Circolo, C Caccioppoli, A Ciccodicola, S Banfi. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur. J. Hum. Genet. 11:155-162 (2002). [PubMed]
F Coppieters, G Ascari, K Dannhausen, K Nikopoulos, F Peelman, M Karlstetter, M Xu, C Brachet, I Meunier, MK Tsilimbaris, C Tsika, SV Blazaki, S Vergult, P Farinelli, T Van Laethem, M Bauwens, M De Bruyne, R Chen, et al., ..., E De Baere. Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination. Am. J. Hum. Genet. 99:470-480 (2016). [PubMed]
F. Coppieters, B.P. Leroy, D. Beysen, J. Hellemans, K. De Bosscher, G. Haegeman, K. Robberecht, W. Wuyts, P.J. Coucke, E. De Baere. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet. 81:147-157 (2007). [PubMed]
M Corton, A Avila-Fernández, L Campello, M Sánchez, B Benavides, MI López-Molina, L Fernández-Sánchez, R Sánchez-Alcudia, LRJ da Silva, N Reyes, E Martín-Garrido, O Zurita, P Fernández-San José, R Pérez-Carro, F García-García, et al., ..., C Ayuso. Identification of the photoreceptor transcriptional co-repressor SAMD11 as novel cause of autosomal recessive retinitis pigmentosa. Sci. Rep. 6:35370 (2016). [PubMed]
RG Coussa, EA Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt, RK Koenekoop. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin. Genet. 84:150-159 (2013). [PubMed]
FPM Cremers, DJR van de Pol, M van Driel, AI den Hollander, FJJ van Haren, NVAM Knoers, N Tijmes, AAB Bergen, K Rohrschneider, A Blankenagel, AJLG Pinckers, AF Deutman, CB Hoyng. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet. 7:355-362 (1998). [PubMed]
FPM Cremers, DJR van de Pol, LPM van Kerkhoff, B Wieringa, H-H Ropers. Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-677 (1990). [PubMed]
M Crimi, S Galbiati, MP Perini, A Bordoni, G Malferrari, M Sciacco, I Biunno, S Strazzer, M Moggio, N Bresolin, GP Comi. A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness. Neurology 60:1200-1203 (2003). [PubMed]
[ Top of Page | Home Page ]
S Dad, E Østergaard, T Thykjær, A Albrectsen, K Ravn, T Rosenberg, LB Møller. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Clin. Genet. 78:388-397 (2010). [PubMed]
M Danciger, J Hendrickson, J Lyon, C Toomes, JC McHale, GA Fishman, CF Inglehearn, SG Jacobson, DB Farber. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest. Ophthalmol. Vis. Sci. 42:2458-2465 (2001). [PubMed]
P Da Pozzo, E Cardaioli, E Malfatti, GN Gallus, A Malandrini, C Gaudiano, G Berti, F Invernizzi, M Zeviani, A Federico. A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur. J. Hum. Genet. 17:1092-1096 (2009). [PubMed]
AK Das, CHR Becerra, W Yi, J-Y Lu, AN Siakotos, KE Wisniewski, SL Hofmann. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J. Clin. Invest. 102:361-370 (1998). [PubMed]
G David, N Abbas, G Stevanin, A Durr, G Yvert, G Cancel, C Weber, G Imbert, F Saudou, E Antoniou, H Drabkin, R Gemmill, P Giunti, A Benomar, N Wood, M Ruberg, Y Agid, JL Mandel, A Brice. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat. Genet. 17:65-70 (1997). [PubMed]
AE Davidson, ID Millar, JE Urquhart, R Burgess-Mullan, Y Shweikh, N Parry, J O'Sullivan, GJ Maher, M McKibbin, SM Downes, AJ Lotery, SG Jacobson, PD Brown, GCM Black, FDC Manson. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am. J. Hum. Genet. 85:581-592 (2009). [PubMed]
AE Davidson, N Schwarz, L Zelinger, G Stern-Schneider, A Shoemark, B Spitzbarth, M Gross, U Laxer, J Sosna, PI Sergouniotis, NH Waseem, R Wilson, RA Kahn, V Plagnol, U Wolfrum, E Banin, AJ Hardcastle, ME Cheetham, D Sharon, AR Webster. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 93:321-329 (2013). [PubMed]
AE Davidson, PI Sergouniotis, DS Mackay, GA Wright, NH Waseem, M Michaelides, GE Holder, AG Robson, AT Moore, V Plagnol, AR Webster. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum. Mutat. 34:506-514 (2013a). [PubMed]
EE Davis, Q Zhang, Q Liu, BH Diplas, LMX Davey, J Hartley, C Stoetzel, K Szymanska, G Ramaswami, CV Logan, DM Muzny, AC Young, DA Wheeler, P Cruz, M Morgan, LR Lewis, P Cherukuri, B Maskeri, NF Hansen, et al., ..., EA Pierce, N Katsanis. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat. Genet. 43:189-196 (2011). [PubMed]
PM D'Cruz, D Yasumura, J Weir, MT Matthes, H Abderrahim, MM LaVail, D Vollrath. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum. Mol. Genet. 9:645-651 (2000). [PubMed]
APM de Brouwer, KL Williams, JA Duley, ABP van Kuilenburg, SB Nabuurs, M Egmont-Petersen, D Lugtenberg, L Zoetekouw, MJG Banning, M Roeffen, BCJ Hamel, L Weaving, RA Ouvrier, JA Donald, RA Wevers, J Christodoulou, H van Bokhoven. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am. J. Hum. Genet. 81:507-518 (2007). [PubMed]
SE de Bruijn, SK Verbakel, E de Vrieze, H Kremer, FPM Cremers, CB Hoyng, LI van den Born, S Roosing. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. J. Med. Genet. 55:705-712 (2018). [PubMed]
C Delettre, G Lenaers, J-M Griffoin, N Gigarel, C Lorenzo, P Belengue, L Pelloquin, J Grosgeorge, C Turc-Carel, E Perret, C Astarie-Dequeker, l Lasquellec, B Arnaud, B Ducommun, J Kaplan, CP Hamel. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26:207-210 (2000). [PubMed]
J Del-Favero, L Krols, A Michalik, J Theuns, A Lofgren, D Goossens, A Wehnert, D Van den Bossche, K Van Zand, H Backhovens, N van Regenmorter, JJ Martin, C Van Broeckhoven. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum. Mol. Genet. 7:177-186 (1998). [PubMed]
M Delous, L Baala, R Salomon, C Laclef, J Vierkotten, K Tory, C Golzio, T Lacoste, L Besse, C Ozilou, I Moutkine, NE Hellman, I Anselme, F Silbermann, C Vesque, C Gerhardt, E Rattenberry, MTF Wolf, MC Gubler, J Martinovic, et al., ..., S Saunier. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 39:875-881 (2007). [PubMed]
AP DeLuca, SS Whitmore, J Barnes, TP Sharma, TA Westfall, CA Scott, MC Weed, JS Wiley, LA Wiley, RM Johnston, MJ Schnieders, SR Lentz, BA Tucker, RF Mullins, TE Scheetz, EM Stone, DC Slusarski. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum. Mol. Genet. 25:44-56 (2016). [PubMed]
FYK Demirci, BW Rigatti, G Wen, AL Radak, TS Mah, CL Baic, EI Traboulsi, T Alitalo, J Ramser, MB Gorin. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am. J. Hum. Genet. 70:1049-1053 (2002). [PubMed]
AI den Hollander, JR Heckenlively, LI van den Born, YJM de Kok, SD van der Velde-Visser, U Kellner, B Jurklies, MJ van Schooneveld, A Blankenagel, K Rohrschneider, B Wissinger, JRM Cruysberg, AF Deutman, HG Brunner, et al., ..., FPM Cremers. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am. J. Hum. Genet. 69:198-203 (2001). [PubMed]
AI den Hollander, RK Koenekoop, MD Mohamed, HH Arts, K Boldt, KV Towns, T Sedmak, M Beer, K Nagel-Wolfrum, M McKibbin, S Dharmaraj, I Lopez, L Ivings, GA Williams, K Springell, CG Woods, H Jafri, Rashid Y, Strom TM, et al., ..., R Roepman. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 39:889-895 (2007). [PubMed]
AI den Hollander, RK Koenekoop, S Yzer, I Lopez, ML Arends, KEJ Voesenek, MN Zonneveld, TM Strom, T Meitinger, HG Brunner, CB Hoyng, LI van den Born, K Rohrschneider, FPM Cremers. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79:556-561 (2006). [PubMed]
AI den Hollander, TL McGee, C Ziviello, S Banfi, TP Dryja, F Gonzalez-Fernandez, D Ghosh, EL Berson. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 50:1864-1872 (2009). [PubMed]
AI den Hollander, JB ten Brink, YJM de Kok, S van Soest, LI van den Born, MA van Driel, DJR van De Pol, AM Payne, SS Bhattacharya, U Kellner, CB Hoyng, A Westerveld, HG Brunner, EM Bleeker-Wagemakers, AF Deutman, JR Heckenlively, FPM Cremers, AAB Bergen. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat. Genet. 23:217-221 (1999a). [PubMed]
AI den Hollander, SD van der Velde-Visser, AJLG Pinckers, CB Hoyng, HG Brunner, FPM Cremers. Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. Hum. Genet. 104:73-76 (1999). [PubMed]
AI den Hollander, JJC van Lith-Verhoeven, FF Kersten, JGAM Heister, CGF de Kovel, AF Deutman, CB Hoyng, FPM Cremers. Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2. J. Med. Genet. 41:699-702 (2004). [PubMed]
A Dev Borman, LR Pearce, DS Mackay, K Nagel-Wolfrum, AE Davidson, R Henderson, S Garg, NH Waseem, AR Webster, V Plagnol, U Wolfrum, IS Farooqi, AT Moore. A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum. Mutat. 35:289-293 (2013). [PubMed]
A DeWan, M Liu, S Hartman, SS-M Zhang, DTL Liu, C Zhao, POS Tam, WM Chan, DSC Lam, M Snyder, C Barnstable, CP Pang, J Hoh. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314:989-992 (2006). [PubMed]
RS Dhallan, JP Macke, RL Eddy, TB Shows, RR Reed, KW Yau, J Nathans. Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. J. Neurosci. 12:3248-3256 (1992). [PubMed]
S Dharmaraj, Y Li , JM Robitaille, E Silva, D Zhu, TN Mitchell, LP Maltby, AB Baffoe-Bonnie, IH Maumenee. A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am. J. Hum. Genet. 66:319-326 (2000). [PubMed]
R Dharmat, W Liu, Z Ge, Z Sun, L Yang, Y Li, K Wang, K Thomas, R Sui, R Chen. IFT81 as a candidate gene for nonsyndromic retinal degeneration. Invest. Ophthalmol. Vis. Sci. 58:2483-2490 (2017). [PubMed]
N Di Donato, T Neuhann, A-K Kahlert, B Klink, K Hackmann, I Neuhann, B Novotna, J Schallner, C Krause, IA Glass, SE Parnell, A Benet-Pages, AM Nissen, W Berger, J Altmüller, H Thiele, BHF Weber, E Schrock, WB Dobyns, A Bier, A Rump. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J. Med. Genet. 53:419-425 (2016). [PubMed]
F Di Palma, RH Holme, EC Bryda, IA Belyantseva, R Pellegrino, B Kachar, KP Steel, K Noben-Trauth. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat. Genet. 27:103-107 (2001). [PubMed]
T Dixon-Salazar, JL Silhavy, SE Marsh, CM Louie, LC Scott, A Gururaj, L Al-Gazali, AA Al-Tawari, H Kayserili, L Sztriha, JG Gleeson. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am. J. Hum. Genet. 75:979-987 (2004). [PubMed]
H Dollfus, MG Mattei, JM Rozet, O Delrieu, A Munnich, J Kaplan. Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25). Genomics 17:526-528 (1993). [PubMed]
F Donaudy, L Zheng, R Ficarella, E Ballana, M Carella, S Melchionda, X Estivill, JR Bartles, P Gasparini. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. J. Med. Genet. 43:157-161 (2006). [PubMed]
SM Downes, GE Holder, FW Fitzke, AM Payne, MJ Warren, SS Bhattacharya, AC Bird. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch. Ophthalmol. 119:96-105 (2001). [PubMed]
LM Downey, TJ Keen, IK Jalili, J McHale, MJ Aldred, SP Robertson, A Mighell, S Fayle, B Wissinger, CF Inglehearn. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. Eur. J. Hum. Genet. 10:865-869 (2002). [PubMed]
LM Downey, TJ Keen, E Roberts, DC Mansfield, M Bamashmus, CF Inglehearn. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am. J. Hum. Genet. 68:778-781 (2001). [PubMed]
LM Downs, JS Bell, J Freeman, C Hartley, LJ Hayward, CS Mellersh. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim. Genet. 44:169-177 (2012). [PubMed]
B Dreyer, L Tranebjærg, V Brox, T Rosenberg, C Möller, M Beneyto, MD Weston, WJ Kimberling, CW Cremers, XZ Liu, O Nilssen. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am. J. Hum. Genet. 69:228-234 (2001). [PubMed]
TP Dryja, SM Adams, JLGrimsby, TL McGee, D-H Hong, T Li, S Andréasson, EL Berson. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am. J. Hum. Genet. 68:1295-1298 (2001). [PubMed]
TP Dryja, EL Berson, V Rao, DD Oprian. Heterozygous missense mutation in the rhodopsin gene as the cause of congenital stationary night blindness. Nat. Genet. 4:280-283 (1993). [PubMed]
TP Dryja, JT Finn, Y-W Peng, TL McGee, EL Berson, K-W Yau. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92:10177-10181 (1995). [PubMed]
TP Dryja, LB Hahn, K Kajiwara, EL Berson. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 18:1972-1982 (1997). [PubMed]
TP Dryja, LB Hahn, TL McGee, GS Cowley, EL Berson. Mutation spectrum of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88:9370-9374 (1991). [PubMed]
TP Dryja, LB Hahn, T Reboul, B Arnaud. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat. Genet. 13:358-360 (1996). [PubMed]
TP Dryja, TL McGee, EL Berson, GA Fishman, MA Sandberg, KR Alexander, DJ Derlacki, AS Rajagopalan. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc. Natl. Acad. Sci. USA 102:4884-4889 (2005). [PubMed]
TP Dryja, TI McGee, LB Hahn, GS Cowley, JE Olsson, E Reichel, MA Sandberg, EL Berson. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Eng. J. Med. 323:1302-1307 (1990). [PubMed]
TP Dryja, TL McGee, E Reichel, LB Hahn, GS Cowley, DW Yandell, MA Sandberg, EL Berson. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364-366 (1990a). [PubMed]
TP Dryja, S Mukai, R Petersen, JM Rapaport, D Walton, DW Yandell. Parental origin of mutations of the retinoblastoma gene. Nature 339:556-58 (1989). [PubMed]
TP Dryja, DE Rucinski, SH Chen, EL Berson. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 40:1859-1865 (1999). [PubMed]
VN D'Souza, N thi Man, GE Morris, W Karges, D-AM Pillers. A novel dystrophin isoform is required for normal retinal electrophysiology. Hum. Mol. Genet. 5:837-842 (1995). [PubMed]
I Duran, SP Taylor, W Zhang, J Martin, KN Forlenza, RP Spiro, DA Nickerson, M Bamshad, DH Cohn, D Krakow. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a spectrum of short-rib polydactyly syndrome. Sci. Rep. 6:34232 (2016). [PubMed]
YK Durlu, C Köroğlu, A Tolun. Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol. 132:1185-1191 (2014). [PubMed]
L Dvir, G Srour, R Abu-Ras, B Miller, SA Shalev, T Ben-Yosef. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am. J. Hum. Genet. 87:258-264 (2010). [PubMed]
[ Top of Page | Home Page ]
I Ebermann, RK Koenekoop, I Lopez, L Bou-Khzam, R Pigeon, HJ Bolz. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. Eur. J. Hum. Genet. 17:80-84 (2009a). [PubMed]
I Ebermann, I Lopez, M Bitner-Glindzicz, C Brown, RK Koenekoop, HJ Bolz. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol. 8:R47 (2007a). [PubMed]
I Ebermann, HPN Scholl, P Charbel Issa, E Becirovic, J Lamprecht, B Jurklies, JM Millán, E Aller, D Mitter, H Bolz. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum. Genet. 121:203-211 (2007). [PubMed]
I Ebermann, MHJ Wiesen, E Zrenner, I Lopez, R Pigeon, S Kohl, H Löwenheim, RK Koenekoop, HJ Bolz. GPR98 mutations cause Usher syndrome type 2 in males. J. Med. Genet. 46:277-280 (2009). [PubMed]
S Edvardson, A Shaag, S Zenvirt, Y Erlich, GJ Hannon, AL Shanske, JM Gomori, J Ekstein, O Elpeleg. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am. J. Hum. Genet. 86:93-97 (2010). [PubMed]
AO Edwards, D Chen, BL Fridley, KM James, Y Wu, G Abecasis, A Swaroop, M Othman, K Branham, SK Iyengar, TA Sivakumaran, R Klein, BE Klein, N Tosakulwong. Toll-like receptor polymorphisms and age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 49:1652-1659 (2008). [PubMed]
AO Edwards, LA Donoso, R Ritter III. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest. Ophthalmol. Vis. Sci. 42:2652-2663 (2001). [PubMed]
AO Edwards, ML Klein, CB Berselli, JF Hejtmancik, K Rust, MK Wirtz, RG Weleber, TS Acott. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. Am. J. Ophthalmol. 126:417-424 (1998). [PubMed]
AO Edwards, R Ritter III, KJ Abel, A Manning, C Panhuysen, LA Farrer. Complement factor H polymorphism and age-related macular degeneration. Science 308:421-424 (2005). [PubMed]
AO Edwards, A Swaroop, JM Seddon. Geographic atrophy in age-related macular degeneration and TLR3. N. Engl. J. Med. 360:2254-2255 (2009). [PubMed]
H Eiberg, RM Gardiner, J Mohr. Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16. Clin. Genet. 36:217-218. (1989). [PubMed]
H Eiberg, B Kjer, P Kjer, T Rosenberg. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum. Mol. Genet. 3:97-980 (1994). [PubMed]
ER Eichers, JS Green, DW Stockton, CS Jackman, J Whelan, JA McNamara, GJ Johnson, JR Lupski, N Katsanis. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am. J. Hum. Genet. 70:955-964 (2002). [PubMed]
T Eisenberger, R Slim, A Mansour, M Nauck, G Nürnberg, P Nürnberg, C Decker, C Dafinger, I Ebermann, C Bergmann, HJ Bolz. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J. Rare Dis. 7:59 (2012). [PubMed]
A El-Amraoui, I Sahly, S Picaud, J Sahel, M Abitbol, C Petit. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5:1171-1178 (1996). [PubMed]
ME El-Asrag, PI Sergouniotis, M McKibbin, V Plagnol, E Sheridan, N Waseem, Z Abdelhamed, D McKeefry, K Van Schil, JA Poulter, UK Inherited Retinal Disease Consortium, CA Johnson, IM Carr, BP Leroy, E De Baere, CF Inglehearn, AR Webster, C Toomes, M Ali. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am. J. Hum. Genet. 96:948-954 (2015). [PubMed]
S El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, C Michiels, A Antonio, F Boyard, M-E Lancelot, M Letexier, J-P Saraiva, T Léveillard, S Mohand-Saïd, O Goureau, J-A Sahel, C Zeitz, I Audo. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. Am. J. Hum. Genet. 94:625-633 (2014). [PubMed]
H El-Shanti, AC Lidral, N Jarrah, L Druhan, K Ajlouni. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am. J. Hum. Genet. 66:1229-1236 (2000). [PubMed]
S Ernest, G-J Rauch, P Haffter, R Geisler, C Petit, T Nicolson. Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. Hum. Mol. Genet. 9:2189-2196 (2000). [PubMed]
P Escher, P Gouras, R Roduit, L Tiab, S Bolay, T Delarive, S Chen, C-C Tsai, M Hayashi, J Zernant, JE Merriam, N Mermod, R Allikmets, FL Munier, DF Schorderet. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Hum. Mutat. 30:342-351 (2009). [PubMed]
A Estrada-Cuzcano, RK Koenekoop, F Coppieters, S Kohl, I Lopez, RWJ Collin, EBW De Baere, D Roeleveld, J Marek, A Bernd, K Rohrschneider, LI van den Born, F Meire, IH Maumenee, SG Jacobson, CB Hoyng, E Zrenner, FPM Cremers, AI den Hollander. IQCB1 mutations in patients with Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 52:834-839 (2011). [PubMed]
A Estrada-Cuzcano, RK Koenekoop, A Senechal, EBW De Baere, T de Ravel, S Banfi, S Kohl, C Ayuso, D Sharon, CB Hoyng, CP Hamel, BP Leroy, C Ziviello, I Lopez, A Bazinet, B Wissinger, I Sliesoraityte, A Avila-Fernandez, et al., ..., JB Klevering. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch. Ophthalmol. 130:1425-1432 (2012). [PubMed]
A Estrada-Cuzcano, K Neveling, S Kohl, E Banin, Y Rotenstreich, D Sharon, TC Falik-Zaccai, S Hipp, R Roepman, B Wissinger, SJF Letteboer, DA Mans, EAW Blokland, MP Kwint, SJ Gijsen, RAC van Huet, RWJ Collin, H Scheffer, et al., ..., FPM Cremers. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am. J. Hum. Genet. 90:102-109 (2012a). [PubMed]
JD Eudy, MD Weston, S Yao, DM Hoover, HL Rehm, M Ma-Edmonds, D Yan, L Ahmad, LL Cheng, C Ayuso, C Cremers, S Davenport, C Moller, CB Talmadge, KW Beisel, M Tamayo, CC Morton, A Swaroop, WJ Kimberling, J Sumegi. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753-1757 (1998). [PubMed]
K Evans, J Duvall-Young, FW Fitzke, GB Arden, SS Bhattacharya, AC Bird. Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype. Arch. Ophthalmol. 113:195-201 (1995). [PubMed]
K Evans, A Fryer, C Inglehearn, J Duvall-Young, JL Whittaker, CY Gregory, R Butler, N Ebenezer, DM Hunt, S Bhattacharya. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat. Genet. 6:210-213 (1994). [PubMed]
[ Top of Page | Home Page ]
F Faletra, AP D'Adamo, I Bruno, E Athanasakis, S Biskup, L Esposito, P Gasparini. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am. J. Med. Genet. A 164A:42-47 (2013). [PubMed]
MJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, C Chakarova, I Audo, DS Mackay, C Zeitz, AD Borman, M Staniszewska, R Shukla, L Palavalli, S Mohand-Said, NH Waseem, S Jalali, JC Perin, E Place, J Ostrovsky, et al.,... , EA Pierce. NMNAT1 mutations cause Leber congenital amaurosis. Nat. Genet. 44:1040-1045 (2012). [PubMed]
Y Fan, MA Esmail, SJ Ansley, OE Blacque, K Boroevich, AJ Ross, SJ Moore, JL Badano, H May-Simera, DS Compton, JS Green, RA Lewis, MM van Haelst, PS Parfrey, DL Baillie, PL Beales, N Katsanis, WS Davidson, MR Leroux. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat. Genet. 36:989-993 (2004). [PubMed]
DB Farber, JS Danciger, G Aguirre. The beta subunit of cyclic GMP phosphodiesterase is deficient in canine rod-cone dysplasia 1. Neuron 9:349-56 (1992). [PubMed]
Q Farjo, A Jackson, S Pieke-Dahl, K Scott, WJ Kimberling, PA Sieving, JE Richards, A Swaroop. Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. Genomics 45:395-401 (1997). [PubMed]
GJ Farrar, JBC Findlay, R Kumar-Singh, P Kenna, MM Humphries, E Sharpe, P Humphries. Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. Hum. Mol. Genet. 1:769-771 (1992). [PubMed]
GJ Farrar, SA Jordan, P Kenna, MM Humphries, R Kumar-Singh, P McWilliam, V Allamand, E Sharp, P Humphries. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics 11:870-874 (1991). [PubMed]
GJ Farrar, P McWilliams, DG Bradley, P Kenna, M Lawler, EM Sharp, MM Humphries, H Eiberg, PM Conneally, JA Trofatter, P Humphries. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 8:35-40 (1990a). [PubMed]
J Favor, R Sandulache, A Neuhauser-Klaus, W Pretsch, B Chatterjee, E Senft, W Wurst, V Blanquet, P Grimes, R Sporle, K Schughart K. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc. Natl. Acad. Sci. USA 93:13870-13875 (1996). [PubMed]
U Felbor, H Schilling, BHF Weber. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum. Mutat. 10:301-309 (1997a). [PubMed]
U Felbor, H Stöhr, T Amann, U Schönherr, BHF Weber. A novel Ser56Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum. Mol. Genet. 4:2415-2416 (1995). [PubMed]
U Felbor, EA Suvanto, HR Forsius, AW Eriksson, BHF Weber. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am. J. Hum. Genet. 60:57-62 (1997). [PubMed]
RJ Ferland, W Eyaid, RV Collura, LD Tully, RS Hill, D Al-Nouri, A Al-Rumayyan, M Topcu, G Gascon, A Bodell, YY Shugart, M Ruvolo, CA Walsh. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36:1008-1013 (2004). [PubMed]
M Ferré, D Bonneau, D Milea, A Chevrollier, C Verny, H Dollfus, C Ayuso, S Defoort, C Vignal, X Zanlonghi, J-F Charlin, J Kaplan, S Odent, CP Hamel, V Procaccio, P Reynier, P Amati-Bonneau. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum. Mutat. 30:E692-E705 (2009). [PubMed]
RE Ferrell, HM Hittner, JH Antoszyk. Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. Am. J. Hum. Genet. 35:78-84 (1983). [PubMed]
U Finckh, S Xu, G Kumaramanickavel, M Schürmann, JK Mukkadan, T Fernandez, S John, JL Weber, MJ Denton, A Gal. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. Genomics 48:341-345 (1998). [PubMed]
JH Fingert, RA Honkanen, SP Shankar, LM Affatigato, MA Ehlinger, MD Moore, LM Jampol, VC Sheffield, EM Stone, WLM Alward. Familial cavitary optic disk anomalies: identification of a novel genetic locus. Am. J. Ophthalmol. 143:795-800 (2007). [PubMed]
JH Fingert, K Oh, M Chung, TE Scheetz, JL Andorf, RM Johnson, VC Sheffield, EM Stone. Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Arch. Ophthalmol. 126:1301-1307 (2008). [PubMed]
T Fiskerstrand, D H'mida-Ben Brahim, S Johansson, A M'zahem, BI Haukanes, N Drouot, J Zimmermann, AJ Cole, C Vedeler, C Bredrup, M Assoum, M Tazir, T Klockgether, A Hamri, VM Steen, H Boman, LA Bindoff, M Koenig, PM Knappskog. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am. J. Hum. Genet. 87:410-417 (2010). [PubMed]
J Fitzgibbon, B Appukuttan, S Gayther, D Wells, J Delhanty, DM Hunt. Localization of the human blue cone pigment gene to chromosome band 7q31.3-32. Hum. Genet. 93:79-80 (1994). [PubMed]
K Forsman, C Graff, S Nordstrom, K Johansson, E Westermark, E Lundgren, KH Gustavson, C Wadelius, G Holmgren. The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin. Genet. 42:156-159 (1992). [PubMed]
R Fossdal, F Jonasson, GT Kristjansdottir, A Kong, H Stefansson, S Gosh, JR Gulcher, K Stefansson. A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). Hum. Mol. Genet. 13:975-981 (2004). [PubMed]
R Fossdal, L Magnússon, JL Weber, O Jensson. Mapping the locus of atrophia areata, a helicoid peripapillary chroioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. Hum. Mol. Genet. 4:479-483 (1995). [PubMed]
PJ Francis, S Johnson, B Edmunds, RE Kelsell, E Sheridan, C Garrett, GE Holder, DM Hunt, AT Moore. Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. Br. J. Ophthalmol. 87:893-898 (2003). [PubMed]
U Francke. Retinoblastoma and chromosome 13. Cytogenet. Cell Genet. 16:131-134 (1976). [PubMed]
CA Francomano, RM Liberfarb, T Hirose, IH Maumenee, EA Streeten, DA Meyers, RE Pyeritz. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1:293-296 (1987). [PubMed]
V Frank, AI den Hollander, NO Brüchle, MN Zonneveld, G Nürnberg, C Becker, G Du Bois, H Kendziorra, S Roosing, J Senderek, P Nürnberg, FPM Cremers, K Zerres, C Bergmann. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum. Mutat. 29:45-52 (2007). [PubMed]
M Frasson, JA Sahel, M Fabre, M Simonutti, H Dreyfus, S Picaud. Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse. Nat. Med. 5:1183-1187 (1999). [PubMed]
CL Freund, CY Gregory-Evans, T Furukawa, M Papaioannou, J Looser, L Ploder, J Bellingham, D Ng, JA Herbrick, A Duncan, SW Scherer, LC Tsui, A Loutradis-Anagnostou, SG Jacobson, CL Cepko, SS Bhattacharya, RR McInnes. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543-553 (1997). [PubMed]
CL Freund, Q-L Wang, S Chen, BL Muskat, CD Wiles, VC Sheffield, SG Jacobson, RR McInnes, DJ Zak, EM Stone. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat. Genet. 18:311-312 (1998). [PubMed]
RA Fridell, LS Harding, HP Bogerd, BR Cullen. Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins. Virology 209:347-357 (1995). [PubMed]
JS Friedman, B Chang, C Kannabiran, C Chakarova, HP Singh, S Jalali, NL Hawes, K Branham, M Othman, E Filippova, DA Thompson, AR Webster, S Andréasson, SG Jacobson, SS Bhattacharya, JR Heckenlively, A Swaroop. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am. J. Hum. Genet. 79:1059-1070 (2006). [PubMed]
JS Friedman, JW Ray, N Waseem, K Johnson, MJ Brooks, T Hugosson, D Breuer, KE Branham, DS Krauth, SJ Bowne, LS Sullivan, V Ponjavic, L Gränse, R Khanna, EH Trager, LM Gieser, D Hughbanks-Wheaton, RI Cojocaru, NM Ghiasvand, et al., ..., A Swaroop. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am. J. Hum. Genet. 84:792-800 (2009). [PubMed]
SH Friend, R Bernards, S Rogelj, RA Weinberg, JM Rapaport, DM Albert, TP Dryja. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323:643-646 (1986). [PubMed]
P Frosk, T Weiler, E Nylen, T Sudha, CR Greenberg, K Morgan, TM Fujiwara, K Wrogemann. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am. J. Hum. Genet. 70:663-672 (2002). [PubMed]
KJ Fryxell, EM Meyerowitz. The evolution of rhodopsins and neurotransmitter receptors. J. Mol. Evol. 33:367-378 (1991). [PubMed]
L Fu, D Garland, Z Yang, D Shukla, A Rajendran, E Pearson, EM Stone, K Zhang, EA Pierce. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum. Mol. Genet. 16:2411-2422 (2007). [PubMed]
Q Fu, M Xu, X Chen, X Sheng, Z Yuan, Y Liu, H Li, Z Sun, H Li, L Yang, K Wang, F Zhang, Y Li, C Zhao, R Sui, R Chen. CEP78 is mutated in a distinct type of Usher syndrome. J. Med. Genet. 54:190-195 (2017). [PubMed]
S Fuchs, M Nakazawa, M Maw, M Tamai, Y Oguchi, A Gal. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat. Genet. 10:360-362 (1995). [PubMed]
S Fuchs, D van de Pol, U Beudt, U Kellner, F Meire, W Berger, A Gal. Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. Hum. Mutat. 8:85-88 (1996). [PubMed]
S Fuchs, SY Xu, M Caballero, M Salcedo, A La O, H Wedemann, A Gal. A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. Hum. Mol. Genet. 3:655-656 (1994). [PubMed]
R Fujita, M Buraczynska, L Gieser, W Wu, P Forsythe, M Abrahamson, SG Jacobson, PS Siebving, S Andréasson, A Swaroop. Analysis of the RPGR gene in 11 pedigrees with retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am. J. Hum. Genet. 61:571-580 (1997). [PubMed]
P Fullwood, J Jones, S Bundey, J Dudgeon, AR Fielder, MW Kilpatric. X-linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br. J. Ophthalmol. 77:168-170 (1993). [PubMed]
T Furukawa, EM Morrow, T Li, FC Davis, CL Cepko. Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat. Genet. 23:466-470 (1999). [PubMed]
[ Top of Page | Home Page ]
A Gal, Y Li, DA Thompson, J Weir, U Orth, SG Jacobson, E Apfelstedt-Sylla, D Vollrath. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat. Genet. 26:270-271 (2000). [PubMed]
A Gal, U Orth, W Baehr, E Schwinger, T Rosenberg. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat. Genet. 7:64-67 (1994). [PubMed]
A Gal, A Schnizel, U Orth, NA Fraser, F Mollica, IW Craig, T Kruse, M Mächler, M Neugebauer, LM Bleeker-Wagemakers. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum. Genet. 81:315-318 (1989). [PubMed]
A Gal, C Stolzenberger, T Wienker, P Wieacker, HH Ropers, U Friedrich, L Bleeker-Wagemakers, P Pearson, M Warburg. Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome. Clin. Genet. 27:282-283 (1985). [PubMed]
A Gal, S Xu, Y Piczenik, H Eiberg, C Duvigneau, E Schwinger, T Rosenberg. Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. Hum. Mol. Genet. 3:323-325 (1994). [PubMed]
M Gardiner, A Sandford, M Deadman, J Poulton, W Cookson, S Reeders, I Jokiaho, L Peltonen, H Eiberg, C Julier. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics 8:387-390 (1990). [PubMed]
J Gartner, H Moser, D Valle. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat. Genet. 1:16-23 (1992). [PubMed]
A Gehrig, U Felbor, RE Kelsell, DM Hunt, IH Maumenee, BHF Weber. Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). J. Med. Genet. 35:641-645 (1998). [PubMed]
S Gerber, D Bonneau, B Gilbert, A Munnich, J-L Dufier, J-M Rozet, J Kaplan. USH1A: chronicle of a slow death. Am. J. Hum. Genet. 78:357-359 (2006). [PubMed]
S Gerber, J-M Rozet, D Bonneau, E Souied, A Camuzat, J-L Dufier, P Amalric, J Weissenbach, A Munnich, J Kaplan. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am. J. Hum. Genet. 56:396-399 (1995). [PubMed]
S Gerber, J-M Rozet, S-I Takezawa, LC dos Santos, L Lopes, O Gribouval, C Penet, I Perrault, D Ducroq, E Souied, M Jeanpierre, S Romana, J Frézal, F Ferraz, R Yu-Umesono, A Munnich, J Kaplan. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. Hum. Genet. 107:276-284 (2000). [PubMed]
S Gerber, JM Rozet, TJR van de Pol, CB Hoyng, A Munnich, A Blankenagel, J Kaplan, FPM Cremers. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 48:139-142 (1998). [PubMed]
NM Ghiasvand, AB Kanis, C Helms, VC Sheffield, EM Stone, H Donis-Keller. Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. Am. J. Med. Genet. 90:165-168 (2000). [PubMed]
NM Ghisvand, E Shirzad, M Naghavi, MR Vaez Mahdavi. High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population. Am. J. Med. Genet. 78:226-232 (1998). [PubMed]
D Gibbs, SM Azarian, C Lillo, J Kitamoto, AE Klomp, KP Steel, RT Libby, DS Williams. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J. Cell. Sci. 117:6473-6483 (2004). [PubMed]
D Gibbs, J Kitamoto, DS Williams. Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Proc. Natl. Acad. Sci. USA 100:6481-6486 (2003). [PubMed]
F Gibson, J Walsh, P Mburu, A Varela, KA Brown, M Antonio, KW Beisel, KP Steel, SDM Brown. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374:62-64 (1995). [PubMed]
L Gieser, R Fujita, HHH Göring, J Ott, DR Hoffman, AV Cideciyan, DG Birch, SG Jacobson, A Swaroop. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-q27. Am. J. Hum. Genet. 63:1439-1447 (1998). [PubMed]
RL Gillespie, J Urquhart, SC Lovell, S Biswas, NRA Parry, DF Schorderet, IC Lloyd, J Clayton-Smith, GC Black. Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. Invest. Ophthalmol. Vis. Sci. 56:883-891 (2015). [PubMed]
AI Gire, LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol. Vis. 13:1970-1975 (2007). [PubMed]
IA Glass, P Good, MP Coleman, P Fullwood, MG Giles, S Lindsay, AH Nemeth, KE Davies, HA Willshaw, A Fielder, M Kilpatrick, PA Farndon. Genetic mapping of a cone and rod dysfunction (Åland Island eye disease) to the proximal short arm of the human X chromosome. J. Med. Genet. 30:1044-1050 (1993). [PubMed]
SL Go, A Maugeri, JJS Mulder, MA van Driel, FPM Cremers, CB Hoyng. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest. Ophthalmol. Vis. Sci. 44:4035-4043 (2003). [PubMed]
B Gold, JE Merriam, J Zernant, LS Hancox, AJ Taiber, K Gehrs, K Cramer, J Neel, J Bergeron, GR Barile, RT Smith, AMD Genetics Clincal Study Group, GS Hageman, M Dean, R Allikmets. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat. Genet. 38:458-462 (2006). [PubMed]
O Goldstein, B Zangerl, S Pearce-Kelling, DJ Sidjanin, JW Kijas, J Felix, GM Acland, GD Aguirre. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88:541-550 (2006). [PubMed]
R Goliath, Y Shugart, P Janssens, J Weissenbach, P Beighton, R Ramasar, J Greenberg. Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. Am. J. Hum. Genet. 57:962-965 (1995). [PubMed]
NT Gorden, HH Arts, MA Parisi, KLM Coene, SJF Letteboer, SEC van Beersum, DA Mans, A Hikida, M Eckert, D Knutzen, AF Alswaid, H Özyurek, S Dibooglu, EA Otto, Y Liu, EE Davis, CM Hutter, TK Bammler, FM Farin, M Dorschner, et al., ..., D Doherty. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am. J. Hum. Genet. 83:559-571 (2008). [PubMed]
LG Gouw, CD Kaplan, JH Haines, KD Digre, SL Rutledge, A Matilla, M Leppert, HY Zoghbi, LJ Ptácek. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat. Genet. 10:89-93 (1995). [PubMed]
S Goyal, M Jäger, PN Robinson, V Vanita. Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). Clin. Genet. 89:454-460 (2015). [PubMed]
C Graff, K Forsman, C Larsson, S Nordström, L Lind, K Johansson, O Sandgren, J Weissenbach, G Holmgren, K-H Gustavson, C Wadelius. Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. Genomics 24:425-434 (1994). [PubMed]
MG Grand, J Kaine, K Fulling, J Atkinson, SB Dowton, M Farber, J Craver, K Rice. Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology 95:649-659 (1988). [PubMed]
C Grayson, SNM Reid, JA Ellis, A Rutherford, JC Sowden, JRW Yates, DB Farber, D Trump. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum. Mol. Genet. 9:1873-1879 (2000). [PubMed]
J Greenberg, R Goliath, P Beighton, R Ramesar. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum. Mol. Genet. 6:915-918 (1994). [PubMed]
CY Gregory, K Evans, JL Whittaker, A Fryer, J Weissenbach, SS Bhattacharya. Refinement of the cone-rod dystrophy locus on chromosome 19q. Am. J. Hum. Genet. 55:1061-1063 (1994). [PubMed]
CY Gregory, K Evans, SD Wijesuriya, S Kermani, MR Jay, C Plant, N Cox, AC Bird, SS Bhattacharya. The gene for autosomal dominant Doyn`s honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum. Mol. Genet. 7:1055-1059 (1996). [PubMed]
IB Griesinger, PA Sieving, R Ayyagari. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest. Ophthalmol. Vis. Sci. 41:248-255 (2000). [PubMed]
CA Griffin, CL Ding, EW Jabs, AL Hawkins, X Li, MA Levine. Human rod cGMP-gated cation channel gene maps to 4p12-centromere by chromosomal in situ hybridization. Genomics 16:302-303 (1993). [PubMed]
AJ Griffith, LK Sprunger, DA Sirko-Osadsa, GE Tiller, MH Meisler, ML Warman. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am. J. Hum. Genet. 62:816-823 (1998). [PubMed]
G Grüning, JM Millan, M Meins, M Beneyto, M Caballero, E Apfelstedt-Sylla, R Bosch, E Zrenner, F Prieto, A Gal. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. Hum. Mutat. 3:321-323 (1994). [PubMed]
S Gu, G Kumaramanickavel, CR Srikumari, MJ Denton, A Gal. Autosomal recessive retinitis pigmentosa locus maps between D2S1337 and D2S286 on chromosome 2p11-p16 in an Indian family. J. Med. Genet. 36:705-707 (1999). [PubMed]
S Gu, A Lennon, Y Li, B Lorenz, M Fossarello, M North, A Gal, A Wright. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. Lancet 351:1103-1104 (1998). [PubMed]
S-m Gu, DA Thompson, CRS Srikumari, B Lorentz, U Finckh, A Nicoletti, KR Murthy, M Rathmann, G Kumaramanickavel, MJ Denton, A Gal. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17:194-197 (1997). [PubMed]
X Guillonneau, NI Piriev, M Danciger, CA Kozak, AV Cideciyan, SG Jacobson, DB Farber. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum. Mol. Genet. 8:1541-1546 (1999). [PubMed]
KE Guziewicz, B Zangerl, SJ Lindauer, RF Mullins, LS Sandmeyer, BH Grahn, EM Stone, GM Acland, GD Aguirre. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for Best disease. Invest. Ophthalmol. Vis. Sci. 48:1959-1967 (2007). [PubMed]
[ Top of Page | Home Page ]
TB Haack, C Staufner, MG Köpke, BK Straub, S Kölker, C Thiel, P Freisinger, I Baric, PJ McKiernan, N Dikow, I Harting, F Beisse, P Burgard, U Kotzaeridou, J Kühr, U Himbert, RW Taylor, F Distelmaier, et al.,... , H Prokisch. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97:163-169 (2015). [PubMed]
L Haer-Wigman, H Newman, R Leibu, NM Bax, HN Baris, L Rizel, E Banin, A Massarweh, S Roosing, DJ Lefeber, MN Zonneveld-Vrieling, O Isakov, N Shomron, D Sharon, AI Den Hollander, CB Hoyng, FPM Cremers, T Ben-Yosef. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum. Mol. Genet. 24:3742-3751 (2015). [PubMed]
F Haeseleer, Y Imanishi, T Maeda, DE Possin, A Maeda, A Lee, F Rieke, K Palczewski. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat. Neurosci. 7:1079-1087 (2004). [PubMed]
F Haeseleer, G-F Jang, Y Imanishi, CAGG Driessen, M Matsumura, PS Nelson, K Palczewski. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. J. Biol. Chem. 277:45537-45546 (2002). [PubMed]
MA Haeuptle, T Hennet. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum. Mutat. 30:1628-1641 (2009). [PubMed]
GS Hageman, DH Anderson, LV Johnson, LS Hancox, AJ Taiber, LI Hardisty, JL Hageman, HA Stockman, JD Borchardt, KM Gehrs, RJ Smith, G Silvestri, SR Russell, CC Klaver, I Barbazetto, S Chang, LA Yannuzzi, GR Barile, et al., ..., R Allikmets. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. USA 20:7227-7232 (2005). [PubMed]
GS Hageman, PJ Luthert, NHV Chong, LV Johnson, DH Anderson, RF Mullins. An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration. Prog. Retin. Eye Res. 20:705-732 (2001). [PubMed]
SA Hagstrom, M Adamian, M Scimeca, BS Pawlyk, G Yue, T Li. A role for the tubby-like protein 1 in rhodopsin transport. Invest. Ophthalmol. Vis. Sci. 42:1955-1962 (2001). [PubMed]
SA Hagstrom, MA North, PM Nishina, EL Berson, TP Dryja. Recessive mutations in the gene encoding the tubby-like protein TULIP1 in patients with Retinitis Pigmentosa. Nat. Genet. 18:174-176 (1998). [PubMed]
NB Haider, R Carmi, H Shalev, VC Sheffield, D Landau. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am. J. Hum. Genet. 63:1404-1410 (1998). [PubMed]
NB Haider, SG Jacobson, AV Cideciyan, R Swiderski, LM Streb, C Searby, G Beck, R Hockey, DB Hanna, S Gorman, D Duhl, R Carmi, J Bennett, RG Weleber, GA Fishman, AF Wright, EM Stone, VC Sheffield. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat. Genet. 24:127-131 (2000). [PubMed]
NB Haider, J Naggert, PM Nishina. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum. Mol. Genet. 10:1619-1626 (2001). [PubMed]
JL Haines, MA Hauser, S Schmidt, WK Scott, LM Olson, P Gallins, KL Spencer, SY Kwan, M Noureddine, JR Gilbert, N Schnetz-Boutaud, A Agarwal, EA Postel, MA Pericak-Vance. Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421 (2005). [PubMed]
J Halbritter, JD Porath, KA Diaz, DA Braun, S Kohl, M Chaki, SJ Allen, NA Soliman, F Hildebrandt, EA Otto, The GNP Study Group. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum. Genet. 132:865-884 (2013). [PubMed]
A Hameed, A Abid, A Aziz, M Ismail, SQ Mehdi, S Khaliq. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J. Med. Genet. 40:616-619 (2003). [PubMed]
A Hameed, S Khaliq, M Ismail, K Anwar, ND Ebenezer, T Jordan, SQ Mehdi, AM Payne, SS Bhattacharya. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. Invest. Ophthalmol. Vis. Sci. 41:629-633 (2000). [PubMed]
A Hameed, S Khaliq, M Ismail, K Anwar, SQ Mehdi, D Bessant, AM Payne, SS Bhattacharya. A new locus for autosomal recessive retinitis pigmentosa (RP29) mapping to chromosome 4q32-q34 in a Pakistani family. Invest. Ophthalmol. Vis. Sci. 42:1436-1438 (2001). [PubMed]
S Hanein, I Perrault, S Gerber, G Tanguy, F Barbet, D Ducroq, P Calvas, H Dollfus, C Hamel, T Lopponen, F Munier, L Santos, S Shalev, D Zafeiriou, J-L Dufier, A Munnich, J-M Rozet, J Kaplan. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat. 23:306-317 (2004). [PubMed]
S Hanein, I Perrault, O Roche, S Gerber, N Khadom, M Rio, N Boddaert, M Jean-Pierre, N Brahimi, V Serre, D Chretien, N Delphin, L Fares-Taie, S Lachheb, A Rotig, F Meire, A Munnich, J-L Dufier, J Kaplan, J-M Rozet. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am. J. Hum. Genet. 84:493-498 (2009). [PubMed]
C Hanke-Gogokhia, Z Wu, CD Gerstner, JM Frederick, H Zhang, W Baehr. Arf-like protein 3 (ARL3) regulates protein trafficking and ciliogenesis in mouse photoreceptors. J. Biol Chem. 291:7142-7155 (2016). [PubMed]
AJ Hardcastle, Z David-Gray, M Jay, AC Bird, SS Bhattacharya. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Invest. Ophthalmol. Vis. Sci. 38:2750-2755 (1997). [PubMed]
AJ Hardcastle, DL Thiselton, L Van Maldergem, BK Saha, M Jay, C Plant, R Taylor, AC Bird, S Bhattacharya. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am. J. Hum. Genet. 64:1210-1215 (1999). [PubMed]
AJ Hardcastle, DL Thiselton, H Zito, N Ebenezer, TS Mah, MB Gorin, SS Bhattacharya. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest. Ophthalmol. Vis. Sci. 41:2080-2086 (2000). [PubMed]
TJ Harrison, RG Boles, DR Johnson, C LeBlond, LJ Wong. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. Am. J. Ophthalmol. 124:217-221 (1997). [PubMed]
MB Hartig, K Hörtnagel, B Garavaglia, G Zorzi, T Kmiec, T Klopstock, K Rostasy, M Svetel, VS Kostic, M Schuelke, E Botz, A Weindl, I Novakovic, N Nardocci, H Prokisch, T Meitinger. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann. Neurol. 59:248-256 (2006). [PubMed]
DT Hartong, M Dange, TL McGee, EL Berson, TP Dryja, RF Colman. Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat. Genet. 40:1230-1234 (2008). [PubMed]
SJ Hayflick, SK Westaway, B Levinson, B Zhou, MA Johnson, KHL Ching, J Gitschier. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N. Engl. J. Med. 348:33-40 (2003). [PubMed]
C Hayward, X Shu, AV Cideciyan, A Lennon, P Barran, S Zareparsi, L Sawyer, G Hendry, B Dhillon, AH Milam, PJ Luthert, A Swaroop, ND Hastie, SG Jacobson, AF Wright. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration - a genetic model for age-related macular degeneration. Hum. Mol. Genet. 12:2657-2667 (2003). [PubMed]
W He, CW Cowan, TG Wensel. RGS9, a GTPase accelerator for phototransduction. Neuron 20:95-102 (1998). [PubMed]
T Hearn, GL Renforth, C Spalluto, NA Hanley, K Piper, S Brickwood, C White, V Connolly, JFN Taylor, I Russell-Eggitt, D Bonneau, M Walker, DI Wilson. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat. Genet. 31:79-83 (2002). [PubMed]
JR Heckenlively. Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa. Br. J. Ophthalmol. 66:26-30 (1982). [PubMed]
JR Heckenlively, B Chang, LC Erway, C Peng, NL Hawes, GS Hageman, TH Roderick. Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. Proc. Natl. Acad. Sci. USA 92:11100-11104 (1995). [PubMed]
JF Hejtmancik, X Jiao, A Li, YV Sergeev, X Ding, AK Sharma, C-C Chan, I Medina, AO Edwards. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am. J. Hum. Genet. 82:174-180 (2008). [PubMed]
RH Henderson, Z Li, MMA El Aziz, DS Mackay, MA Eljinini, M Zeidan, AT Moore, SS Bhattacharya, AR Webster. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. Mol. Vis. 16:46-52 (2010). [PubMed]
RH Henderson, KA Williamson, JS Kennedy, AR Webster, GE Holder, AG Robson, DR FitzPatrick, V van Heyningen, AT Moore. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol. Vis. 15:2442-2447 (2009). [PubMed]
HHQ Heng, A Wang, J Hu. Mapping of the human HPRP3 and HPRP4 genes encoding U4/U6-associated splicing factors to chromosomes 1q21.1 and 9q31-q33. Genomics 48:273-275 (1998). [PubMed]
E Héon, G Kim, S Qin, JE Garriso, E Tavares, A Vincent, N Nuangchamnong, CA Scott, DC Slusarski, V Sheffield. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum. Mol. Genet. 25:2283-2294 (2016). [PubMed]
E Héon, B Piguet, F Munier, SR Sneed, CM Morgan, S Forni, G Pescia, D Schorderet, CM Taylor, LM Streb, CD Wiles, DY Nishimura, VC Sheffield, EM Stone. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch. Ophthalmol. 114:193-198 (1996). [PubMed]
JJ Higgins, DH Morton, JM Loveless. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurol. 52:146-150 (1999). [PubMed]
F Hildebrandt, E Otto, C Rensing, HG Nothwang, M Vollmer, J Adolphs, H Hanusch, M Brandis. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat. Genet. 17:149-153 (1997). [PubMed]
N Hilgert, K Kahrizi, N Dieltjens, N Bazazzadegan, H Najmabadi, RJH Smith, G Van Camp. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J. Med. Genet. 46:272-276 (2009). [PubMed]
M Hmani, A Ghorbel, A Boulila-Elgaied, Z Ben Zina, W Kammoun, M Drira, M Chaabouni, C Petit, H Ayadi. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur. J. Hum. Genet. 7:363-367 (1999). [PubMed]
M Hmani-Aifa, Z Benzina, F Zulfiqar, H Dhouib, A Shahzadi, A Ghorbel, A Rebaï, P Söderkvist, S Riazuddin, WJ Kimberling, H Ayadi. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.. Europ. J. Hum. Genet. 17:474-482 (2009). [PubMed]
S Hofmann, R Bezold, M Jaksch, P Kaufhold, B Obermaier-Kusser, K-D Gerbitz. Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations. Am. J. Hum. Genet. 60:1539-1542 (1997). [PubMed]
FA Hol, BCJ Hamel, MPA Geurds, I Hansmann, FAE Nabben, O Daniëls, ECM Mariman. Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. Hum. Genet. 95:687-690 (1995). [PubMed]
M Holmberg, J Johansson, L Forsgren, J Heijbel, O Sandgren, G Holmgren. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum. Mol. Genet. 4:1441-1445 (1995). [PubMed]
IJ Holt, AE Harding, RK Petty, JA Morgan-Hughes. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet. 46:428-433 (1990). [PubMed]
D-H Hong, G Yue, M Adamian, T Li. Retinitis pigmentosa GTPase regulator (RPGR)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J. Biol. Chem. 276:12091-12099 (2001). [PubMed]
H-K Hong, RE Ferrell, MB Gorin. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). Am. J. Hum. Genet. 55:1173-1181 (1994). [PubMed]
RA Honkanen, LM Jampol, JH Fingert, MD Moore, CM Taylor, EM Stone, WLM Alward. Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. Am. J. Ophthalmol. 143:788-794 (2007). [PubMed]
J Hoover-Fong, N Sobreira, J Jurgens, P Modaff, C Blout, A Moser, O-H Kim, T-J Cho, SY Cho, SJ Kim, D-K Jin, H Kitoh, W-Y Park, H Ling, KN Hetrick, KF Doheny, D Valle, RM Pauli. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am. J. Hum. Genet. 94:105-112 (2014). [PubMed]
CI Hope, DM Sharp, A Hemara-Wahanui, JI Sissingh, P Lundon, EA Mitchell, MA Maw, GM Clover. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin. Experiment. Ophthalmol. 33:129-136 (2005). [PubMed]
H Houlden, S Lincoln, M Farrer, PG Cleland, J Hardy, RW Orrell. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology 61:1423-1426 (2003). [PubMed]
N Howell. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res. 37:3495-3507 (1997). [PubMed]
Howell N, Bogolin C, Jamieson R, Marenda DR, Mackey DA. mtDNA mutations that cause optic neuropathy: how do we know? Am. J. Hum. Genet. 62:196-202 (1998). [PubMed]
G Hu, TG Wensel. R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1. Proc. Natl. Acad. Sci. USA 99:9755-9760 (2002). [PubMed]
S-I Hu, M Carozza, M Klein, P Nantermet, D Luk, RM Crowl. Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage. J. Biol. Chem. 273:34406-34412 (1998). [PubMed]
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, P Frosk, C Li, JR Willer, BN Chodirker, CR Greenberg, DR McLeod, FP Bernier, AE Chudley, T Müller, M Shboul, CV Logan, CM Loucks, CL Beaulieu, RV Bowie, et al., ..., KM Boycott. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am. J. Hum. Genet. 89:713-730 (2011). [PubMed]
SH Huang, SJ Pittler, X Huang, L Oliveria, EL Berson, TP Dryja. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat. Genet. 11:468-4712 (1995). [PubMed]
AE Hughes, AJ Lotery, G Silvestri. Fine localization of the gene for central areolar choroidal dystrophy on chromosome 17p. J. Med. Genet. 35:770-772 (1998). [PubMed]
AE Hughes, W Meng, AJ Lotery, DT Bradley. A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. Invest. Ophthalmol. Vis. Sci. 53:4748-4753 (2012). [PubMed]
AE Hughes, N Orr, H Esfandiary, M Diaz-Torres, T Goodship, U Chakravarthy. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat. Genet. 38:1173-1177 (2006). [PubMed]
L Huopaniemi, A Rantala, E Tahvanainen, A de la Chapelle, T Alitalo. Linkage disequilibrium and physical mapping of X-linked juvenile retinoschesis. Am. J. Hum. Genet. 60:1139-1149 (1997). [PubMed]
K Huoponen, T Lamminen, V Juvonen, P Aula, E Nikoskelainen, ML Savontaus. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum. Genet. 92:379-384 (1993). [PubMed]
[ Top of Page | Home Page ]
M Indelman, R Bergman, R Lurie, G Richard, B Miller, D Petronius, D Ciubutaro, R Leibu, E Sprecher. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J. Invest. Dermatol. 119:1210-1213 (2002). [PubMed]
CF Inglehearn, SA Carter, TJ Keen, J Lindsey, AM Stephenson, R Bashir, M Al-Maghtheh, AT Moore, M Jay, AC Bird, SS Bhattacharya. A new locus for autosomal dominant retinitis pigmentosa (adRP) on chromosome 7p. Nat. Genet. 4:51-53 (1993). [PubMed]
CF Inglehearn, TJ Keen, M Al-Maghtheh, SS Bhattacharya. Loci for autosomal dominant retinitis pigmentosa and cystoid macular dystrophy on chromosome 7q are not allelic. Am. J. Hum. Genet. 55:581-582 (1994a). [PubMed]
CF Inglehearn, TJ Keen, M Al-Maghtheh, CY Gregory, MR Jay, AT Moore, AC Bird, SS Bhattacharya. Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9). Am. J. Hum. Genet 54:675-680 (1994b). [PubMed]
CF Inglehearn, EE Tarttelin, C Plant, RE Peacock, M Al-Maghtheh, E Vithana, AC Bird, SS Bhattacharya. A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. J. Med. Genet. 35:1-5 (1998). [PubMed]
E Ingley, JH Williams, CE Walker, S Tsai, S Colley, MS Sayer, PA Tilbrook, M Sarna, JG Beaumont, SP Klinken. A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61β subunit. FEBS. Lett. 459:69-74 (1999). [PubMed]
H Inoue, Y Tanizawa, J Wasson, P Behn, K Kalidas, E Bernal-Mizrachi, M Mueckler, H Marshall, H Donis-Keller, P Crock, D Rogers, M Mikuni, H Kumashiro, K Higashi, G Sobue, Y Oka, MA Permutt. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20:143-148 (1998). [PubMed]
Y Isashiki, N Ohba, T Yanagita, N Hokita, N Doi, M Nakagawa, M Ozawa, N Kuroda. Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. Hum. Genet. 95:105-108 (1995). [PubMed]
H Ishiura, Y Fukuda, J Mitsui, Y Nakahara, B Ahsan, Y Takahashi, Y Ichikawa, J Goto, T Sakai, S Tsuji. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. Neurogenetics 12:117-121 (2011). [PubMed]
M Ismail, A Abid, K Anwar, SQ Mehdi, S Khaliq. Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes. J. Hum. Genet. 51:827-831 (2006). [PubMed]
M Iwanami, M Oshikawa, T Nishida, S Nakadomari, S Kato. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 53:1033-1040 (2012). [PubMed]
[ Top of Page | Home Page ]
S Jacobs, C Schilf, F Fliegert, S Koling, Y Weber, A Schürmann, H-G Joost. ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal. FEBS. Lett. 456:384-388 (1999). [PubMed]
SG Jacobson, AV Cideciyan, TS Aleman, MJ Pianta, A Sumaroka, SB Schwartz, EE Smilko, AH Milam, VC Sheffield, EM Stone. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 9:1073-1078 (2003). [PubMed]
SG Jacobson, AV Cideciyan, A Iannaccone, RG Weleber, GA Fishman, AM Maguire, LM Affatigato, J Bennett, EA Pierce, M Danciger, DB Farber, EM Stone. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 41:1898-1908 (2000). [PubMed]
SG Jacobson, AV Cideciyan, G Regunath, FJ Rodriguez, K Vandenburgh, VC Sheffield, EM Stone. Night blindness in Sorsby's funds dystrophy reversed by vitamin A. Nat. Genet. 11:27-32 (1995). [PubMed]
M Jacoby, JJ Cox, S Gayral, DJ Hampshire, M Ayub, M Blockmans, E Pernot, MV Kisseleva, P Compère, SN Schiffmann, F Gergely, JH Riley, D Pérez-Morga, CG Woods, S Schurmans. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat. Genet. 41:1027-1031 (2009). [PubMed]
J Jakobsdottir, YP Conley, DE Weeks, TS Mah, RE Ferrell, MB Gorin. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am. J. Hum. Genet. 77:389-407 (2005). [PubMed]
IK Jalili, NJ Smith. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J. Med. Genet. 25:738-740 (1989). [PubMed]
R Jalkanen, NT Bech-Hansen, R Tobias, E-M Sankila, M Mäntyjärvi, H Forsius, A de la Chapelle, T Alitalo. A novel CACNA1F gene mutation causes Åland Island eye disease. Invest. Ophthalmol. Vis. Sci. 48:2498-2502 (2007). [PubMed]
R Jalkanen, FY Demirci, H Tyynismaa, T Bech-Hansen, A Meindl, M Peippo, M Mäntyjärvi, MB Gorin, T Alitalo. A new genetic locus for X linked progressive cone-rod dystrophy. J. Med. Genet. 40:418-423 (2003). [PubMed]
R Jalkanen, M Mäntyjärvi, R Tobias, J Isosomppi, E-M Sankila, T Alitalo, NT Bech-Hansen. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J. Med. Genet. 43:699-704 (2006). [PubMed]
AR Janecke, DA Thompson, G Utermann, C Becker, CA Hübner, E Schmid, CL McHenry, AR Nair, F Rüschendorf, J Heckenlively, B Wissinger, P Nürnberg, A Gal. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat. Genet. 36:850-854 (2004). [PubMed]
A Janer, J Prudent, V Paupe, S Fahiminiya, J Majewski, N Sgarioto, C Des Rosiers, A Forest, Z-Y Lin, A-C Gingras, G Mitchell, HM McBride, EA Shoubridge. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. EMBO Mol. Med. 8:1019-1038 (2016). [PubMed]
GA Jansen, R Ofman, S Ferdinandusse, L Ijlst, AO Muijser, OH Skjeldal, O Stokke, C Jakobs, GTN Besley, JE Wraith, RJA Wanders. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat. Genet. 17:190-193 (1997). [PubMed]
GA Jansen, RJ Wanders, PA Watkins, SJ Mihalik. Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. New Eng. J. Med. 337:133-134 (1997a). [PubMed]
TJ Jaworek, R Bhatti, N Latief, SN Khan, S Riazuddin, ZM Ahmed. USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. J. Hum. Genet. 57:633-637 (2012). [PubMed]
J Jen, AH Cohen, Q Yue, JT Stout, HV Vinters, S Nelson, RW Baloh. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 49:1322-1330 (1997). [PubMed]
X Jiao, FL Munier, F Iwata, M Hayakawa, A Kanai, J Lee, DF Schorderet, M-S Chen, M Kaiser-Kupfer, JF Hejtmancik. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromsome 4q35. Am. J. Hum. Genet. 67:1309-1313 (2000). [PubMed]
X Jiao, R Ritter III, JF Hejtmancik, AO Edwards. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. Invest. Ophthalmol. Vis. Sci. 45:4498-503 (2004a). [PubMed]
X Jiao, V Ventruto, MT Trese, BS Shastry, JF Hejtmancik. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am. J. Hum. Genet. 75:878-884 (2004). [PubMed]
H Jin, M May, L Tranebjaerg, E Kendall, G Fontan, J Jackson, SH Subramony, F Arena, H Lubs, S Smith, R Stevenson, C Schwartz, D Vetrie. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat. Genet. 14:177-180 (1996). [PubMed]
Z-B Jin, X-F Huang, J-N Lv, L Xiang, D-Q Li, J Chen, C Huang, J Wu, F Lu, J Qu. SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat. Commun. 5:3517 (2014). [PubMed]
T Joensuu, R Hämäläinen, B Yuan, C Johnson, S Tegelberg, P Gasparini, L Zelante, U Pirvola, L Pakarinen, A-E Lehesjoki, A de la Chapelle, E-M Sankila. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am. J. Hum. Genet. 69:673-684 (2001). [PubMed]
S Johnson, S Halford, AG Morris, RJ Patel, SE Wilkie, AJ Hardcastle, AT Moore, K Zhang, DM Hunt. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics 81:304-314 (2003). [PubMed]
RL Johnston, MA Burdon, DJ Spalton, SP Bryant, JT Behnam, MJ Seller. Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree. Arch. Ophthalmol. 115:100-103 (1997). [PubMed]
SA Jordan, GJ Farrar, P Kenna, P Humphries. Polymorphic variation within 'conserved' sequences in the 3' end of the human RDS gene which results in amino acid substitutions. Hum. Mutat. 1:240-247 (1992). [PubMed]
SA Jordan, GJ Farrar, P Kenna, MM Humphries, DM Sheils, R Kumar-Singh, EM Sharp, C Ayuso, J Benitez, P Humphries. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat. Genet. 4:54-58 (1993). [PubMed]
SA Jordan, GJ Farrar, R Kumar-Singh, P Kenna, MM Huphries, V Allamand, EM Sharp, P Humphries. Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin. Am. J. Hum. Genet. 50:634-639 (1992a). [PubMed]
HJ Junge, S Yang, JB Burton, K Paes, X Shu, DM French, M Costa, DS Rice, W Ye. TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. Cell 139:299-311 (2009). [PubMed]
N Jurkute, F Cancellieri, L Pohl, CHZ Li, RA Heaton, J Reurink, J Bellingham, M Quinodoz, G Yioti, M Stefaniotou, M Weener, T Zuleger, TB Haack, K Stingl, Genomics England Research Consortium, CB Hoyng, OA Mahroo, I Hargreaves, et al., ..., G Arno. Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ Genom. Med. 7:60 (2022). [PubMed]
[ Top of Page | Home Page ]
K Kajiwara, LB Hahn, S Mukai, GH Travis, EL Berson, TP Dryja. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354:480-483 (1991). [PubMed]
K Kajiwara, EL Berson, TP Dryja. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-1608 (1994). [PubMed]
K Kajiwara, MA Sandberg, EL Berson, TP Dryja. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat. Genet. 3:208-212 (1993a). [PubMed]
K Kamenarova, S Cherninkova, M Romero Durán, D Prescott, ML Valdés Sánchez, V Mitev, I Kremensky, R Kaneva, SS Bhattacharya, I Tournev, C Chakarova. A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. Eur. J. Hum. Genet. 21:338-342 (2012). [PubMed]
S Kameya, NL Hawes, B Chang, JR Heckenlively, JK Naggert, PM Nishina. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Hum. Mol. Genet. 11:1879-1886 (2002). [PubMed]
C Kannabiran, HP Singh, S Jalali. Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23. Hum. Genet 131:717-723 (2012). [PubMed]
J Kaplan, S Gerber, D Larget-Piet, J-M Rozet, H Dollfus, J-L Dufier, S Odent, A Postel-Vinay, N Janin, M-L Briard, J Frézal, A Munnich. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat. Genet. 5:308-311 (1993). [PubMed]
S Kastner, I-J Thiemann, G Dekomien, E Petrasch-Parwez, S Schreiber, DA Akkad, WM Gerding, S Hoffjan, S Günes, S Günes, H Bagci, JT Epplen. Exome sequencing reveals AGBL5 as novel candidate gene and additional variants for retinitis pigmentosa in five Turkish families. Invest. Ophthalmol. Vis. Sci. 56:8045-8053 (2015). [PubMed]
N Katsanis, SJ Ansley, JL Badano, ER Eichers, RA Lewis, BE Hoskins, PJ Scambler, WS Davidson, PL Beales, JR Lupski. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293:2256-2259 (2001). [PubMed]
N Katsanis, PL Beales, MO Woods, RA Lewis, JS Green, PS Parfrey, SJ Ansley, WS Davidson, JR Lupski. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat. Genet. 26:67-70 (2000). [PubMed]
N Katsanis, ER Eichers, SJ Ansley, RA Lewis, H Kayserili, BE Hoskins, PJ Scambler, PL Beales, JR Lupski. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am. J. Hum. Genet. 71:22-29 (2002). [PubMed]
N Katsanis, RA Lewis, DW Stockton, PMT Mai, L Baird, PL Beales, M Leppert, JR Lupski. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am. J. Hum. Genet. 65:1672-1679 (1999). [PubMed]
Y Kawamura, A Suga, T Fujimaki, K Yoshitake, K Tsunoda, A Murakami, T Iwata. LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. J. Hum. Genet. 63:893-900 (2018). [PubMed]
BJB Keats, N Nouri, MZ Pelias, PL Deininger, M Litt. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am. J. Hum. Genet. 54:681-686 (1994). [PubMed]
LC Keeler, SE Marsh, EP Leeflang, CG Woods, L Sztriha, L Al-Gazali, A Gururaj, JG Gleeson. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am. J. Hum. Genet. 73:656-662 (2003). [PubMed]
TJ Keen, MM Hims, AB McKie, AT Moore, RM Doran, DA Mackey, DC Mansfield, RF Mueller, SS Bhattacharya, AC Bird, AF Markham, CF Inglehearn. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur. J. Hum. Genet. 10:245-249 (2002). [PubMed]
TJ Keen, CF Inglehearn, ED Green, AF Cunningham, RJ Patel, RE Peacock, S Gerken, R White, J Weissenbach, SS Bhattacharya. A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p. Genomics 28:383-38 (1995). [PubMed]
TJ Keen, CF Inglehearn, R Kim, AC Bird, S Bhattacharya. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. Hum. Mol. Genet. 3:367-368 (1994). [PubMed]
TJ Keen, MD Mohamed, M McKibbin, Y Rashid, H Jafri, IH Maumenee, CF Inglehearn. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Eur. J. Hum. Genet. 11:420-423 (2003). [PubMed]
PM Kelley, MD Weston, ZY Chen, DJ Orten, T Hasson, LD Overbeck, J Pinnt, CB Talmadge, P Ing, MS Mooseker, D Corey, J Sumegi, WJ Kimberling. The genomic structure of the gene defective in Usher Syndrome type lb (MY07A). Genomics 40:73-79 (1997). [PubMed]
RE Kelsell, K Evans, CY Gregory, AT Moore, AC Bird, DM Hunt. Localization of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum. Mol. Genet. 6:597-600 (1997). [PubMed]
RE Kelsell, BF Godley, K Evans, PAC Tiffin, CY Gregory, C Plant, AT Moore, AC Bird, DM Hunt. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum. Mol. Genet. 4:1653-1656 (1995). [PubMed]
RE Kelsell, GK Gregory-Evans, CY Gregory-Evans, GE Holder, MR Jay, BHF Weber, AT Moore, AC Bird, DM Hunt. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am. J. Hum. Genet. 63:274-279 (1998). [PubMed]
RE Kelsell, K Gregory-Evans, AM Payne, I Perrault, J Kaplan, RB Yang, DL Garbers, AC Bird, AT Moore, DM Hunt. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum. Mol. Genet. 7:1179-1184 (1998a). [PubMed]
CM Kemp, SG Jacobson, AV Cideciyan, AE Kimura, VC Sheffield, EM Stone. RDS gene mutations causing either macular degeneration or retinitis pigmentosa lead to similar abnormalities of dark adaptation. Invest. Ophthalmol. Vis. Sci. 35:1478 (1994). [PubMed]
P Kena, F Mansergh, S Millington-Ward, A Erven, R Kumar-Singh, R Brennan, GJ Farar, P Humphries. Clinical and molecular genetic characterization of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. Br. J. Ophthalmol. 81:207-213 (1997). [PubMed]
A Kennan, A Aherne, A Palfi, M Humphries, A McKee, A Stitt, DAC Simpson, K Demtroder, T Orntoft, C Ayuso, PF Kenna, GJ Farrar, P Humphries. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice. Hum. Mol. Genet. 11:547-557 (2002). [PubMed]
S Kermani, K Gregory-Evans, EE Tarttelin, J Bellingham, C Plant, AC Bird, M Fox, SS Bhattacharya, CY Gregory-Evans. Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). Hum. Genet. 104:77-82 (1999). [PubMed]
JB Kerrison, VJ Arnould, JM Ferraz, Sallum, MR Vagefi, MM Barmada, Y Li, D Zhu, IH Maumenee. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch. Ophthalmol. 117:805-810 (1999). [PubMed]
S Khaliq, A Abid, M Ismail, A Hameed, A Mohyuddin, P Lall, A Aziz, K Anwar, SQ Mehdi. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J. Med. Genet. 42:436-438 (2005). [PubMed]
S Khaliq, A Hameed, M Ismail, K Anwar, BP Leroy, SQ Mehdi, AM Payne, SS Bhattacharya. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-q24. Invest. Ophthalmol. Vis. Sci. 41:3709-3712 (2000). [PubMed]
S Khaliq, A Hameed, M Ismail, SQ Mehdi, DA Bessant, AM Payne, SS Bhattacharya. Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. Am. J. Hum. Genet. 65:571-574 (1999). [PubMed]
AO Khan. CABP4 mutations do not cause congenital stationary night blindness. Ophthalmology 121:e15 (2013). [PubMed]
AO Khan, E Decker, N Bachmann, HJ Bolz, C Bergmann. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet. 8:1-4 (2016). [PubMed]
AO Khan, S Al Rashaed, C Neuhaus, C Bergmann, HJ Bolz. Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br. J. Ophthalmol. 100:209-215 (2015). [PubMed]
MI Khan, FFJ Kersten, M Azam, RWJ Collin, A Hussain, ST-A Shah, JEE Keunen, H Kremer, FPM Cremers, R Qamar, AI den Hollander. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology 7:1444-1448 (2011). [PubMed]
SC Khani, L Nielsen, TM Vogt. Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness. Proc. Natl. Acad Sci. USA 95: 2824-2827 (1998). [PubMed]
H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, AI den Hollander, MN Zonneveld, MI Othman, N Waseem, CF Chakarova, C Maubaret, A Diaz-Font, I Macdonald, DM Muzny, DA Wheeler, M Morgan, LR Lewis, CV Logan, et al., ..., CN Katsanis. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat. Genet. 41:739-745 (2009). [PubMed]
S Khateb, B Kowalewski, N Bedoni, M Damme, N Pollack, A Saada, A Obolensky, T Ben-Yosef, M Gross, T Dierks, E Banin, C Rivolta, D Sharon. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet. Med. 20:1004-1012 (2018). [PubMed]
S Khateb, L Zelinger, L Mizrahi-Meissonnier, C Ayuso, RK Koenekoop, U Laxer, M Gross, E Banin, D Sharon. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J. Med. Genet. 51:460-469 (2014). [PubMed]
JW Kijas, AV Cideciyan, TS Aleman, MJ Pianta, SE Pearce-Kelling, BJ Miller, SG Jacobson, GD Aguirre, GM Acland. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 99:6328-6333 (2002). [PubMed]
E Kikawa, M Nakazawa, Y Chida, T Shiono, M Tamai. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioactive SSCP. Genomics 20:137-139 (1994). [PubMed]
Y Kikkawa, H Shitara, S Wakana, Y Kohara, T Takada, M Okamoto, C Taya, K Kamiya, Y Yoshikawa, H Tokano, K Kitamura, K Shimizu, Y Wakabayashi, T Shiroishi, R Kominami, H Yonekawa. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum. Mol. Genet. 12:453-461 (2003). [PubMed]
H-J Kim, KM Sohn, ME Shy, KM Krajewski, M Hwang, J-H Park, S-Y Jang, H-H Won, B-O Choi, SH Hong, B-J Kim, Y-L Suh, C-S Ki, S-Y Lee, S-H Kim, J-W Kim. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX55). Am.. J. Hum. Genet. 81:552-558 (2007). [PubMed]
RY Kim, FW Fitzke, AT Moore, M Jay, C Inglehearn, GB Arden, SS Bhattacharya, AC Bird. Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. Br. J. Ophthalmol. 79:23-27 (1995). [PubMed]
SK Kim, A Shindo, TJ Park, EC Oh, S Ghosh, RS Gray, RA Lewis, CA Johnson, T Attie-Bittach, N Katsanis, JB Wallingford. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science 329:1337-1340 (2010). [PubMed]
WJ Kimberling, CG Möller, S Davenport, A Priluck, PH Beighton, J Greenberg, W Reardon, MD Weston, JB Kenyon, JA Grunkemeyer, SP Dahl, LD Overbeck, DJ Blackwood, AM Brower, DM Hoover, P Rowland, RJH Smith. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 14:988-994 (1992). [PubMed]
WJ Kimberling, MD Weston, C Möller, SLH Davenport, YY Shugart, IA Priluck, A Martini, M Milani, RJ Smith. Localization of Usher syndrome type II to chromosome 1q. Genomics 7:245-249 (1990). [PubMed]
WJ Kimberling, MD Weston, C Möller, A van Aarem, CWRJ Cremers, J Sumegi, PS Ing, C Connolly, A Martini, M Milani, ML Tamayo, J Bernal, J Greenberg, C Ayuso. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment of chromosome 1q41. Am. J. Hum. Genet 56:216-2223 (1995). [PubMed]
R Kirschner, T Rosenberg, R Schultz-Heienbrok, S Lenzner, S Feil, R Roepman, FPM Cremers, H-H Ropers, W Berger. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum. Mol. Genet. 8:1571-1578 (1999). [PubMed]
VBD Kitiratschky, R Wilke, AB Renner, U Kellner, M Vadalà, DG Birch, B Wissinger, E Zrenner, S Kohl. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest. Ophthalmol. Vis. Sci. 49:5015-5023 (2008). [PubMed]
JD Kivlin, EW Lovrien, DT Bishop, IH Maumenee. Linkage analysis in dominant optic atrophy. Am. J. Hum. Genet. 35:1190-1195 (1983). [PubMed]
ML Klein, DW Schultz, A Edwards, TC Matise, K Rust, CB Berselli, K Trzupek, RG Weleber, J Ott, MK Wirtz, TS Acott. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch. Ophthalmol. 116:1082-1088 (1998). [PubMed]
RJ Klein, C Zeiss, EY Chew, J-Y Tsai, RS Sackler, C Haynes, AK Henning, JP SanGiovanni, SM Mane, ST Mayne, MB Bracken, FL Ferris, J Ott, C Barnstable, J Hoh. Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389 (2005). [PubMed]
B Kloeckener-Gruissem, D Bartholdi, M-T Abdou, DR Zimmermann, W Berger. Identification of the genetic defect in the original Wagner syndrome family. Mol. Vis. 12:350-355 (2006). [PubMed]
JA Klystra, AS Aylsworth. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can. J. Ophthalmol. 28:79-80 (1993). [PubMed]
S Kmoch, J Majewski, V Ramamurthy, S Cao, S Fahiminiya, H Ren, IM MacDonald, I Lopez, V Sun, V Keser, A Khan, V Stránecký, H Hartmannová, A Přistoupilová, K Hodaňová, L Piherová, L Kuchař, A Baxová, et al.,... , RK Koenekoop. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat. Commun. 6:5614 (2015). [PubMed]
MF Kniazeva, MF Chiang, GR Cutting, DJ Zack, M Han, K Zhang. Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet. 20:71-81 (1999a). [PubMed]
M Kniazeva, MF Chiang, B Morgan, AL Anduze, DJ Zack, M Han, K Zhang. A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4. Am. J. Hum. Genet. 64:1394-1399 (1999). [PubMed]
M Kniazeva, EI Traboulsi, Z Yu, ST Stefko, MB Gorin, YY Shugart, JR O'Connell, CJ Blaschak, G Cutting, M Han, K Zhang. A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. Am. J. Ophthalmol. 130:197-202 (2000). [PubMed]
JA Knowles, Y Shugart, P Banerjee, TC Gilliam, CA Lewis, SG Jacobson, J Ott. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum. Mol. Genet. 3:1401-1403 (1994). [PubMed]
AG Knudson. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA 68:820-823 (1971). [PubMed]
A Kobayashi, T Higashide, D Hamasaki, S Kubota, H Sakuma, W An, T Fujimaki, MJ McLaren, RG Weleber, G Inana. HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. Invest. Ophthalmol. Vis. Sci. 41:3268-3277 (2000). [PubMed]
M Kobayashi, S Takezawa, K Hara, RT Yu, Y Umesono, K Agata, M Taniwaki, K Yasuda, K Umesono. Identification of a photoreceptor cell-specific nuclear receptor. Proc. Natl. Acad. Sci. USA 27:4814-4819 (1999). [PubMed]
CM Koehler, D Leuenberger, S Merchant, A Renold, T Junne, G Schatz. Human deafness dystonia syndrome is a mitochondrial disease. Proc. Natl. Acad. Sci USA 96:2141-1246 (1999). [PubMed]
RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, Y Li, GA Fishman, M Genead, J Schwartzentruber, N Solanki, EI Traboulsi, J Cheng, CV Logan, M McKibbin, BE Hayward, DA Parry, CA Johnson, M Nageeb, JA Poulter, et al.,... , R Chen. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat. Genet. 44:1035-1039 (2012). [PubMed]
S Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, R Spegal, M Anastasi, E Zrenner, LT Sharpe, B Wissinger. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum. Mol. Genet. 9:2107-2116 (2000). [PubMed]
S Kohl, B Baumann, T Rosenberg, U Kellner, B Lorenz, M Vadalà, SG Jacobson, B Wissinger. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am. J. Hum. Genet. 71:422-425 (2002). [PubMed]
S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, S Bolz, MM van Genderen, FCC Riemslag, R Lukowski, R Lukowski, AI den Hollander, FPM Cremers, E De Baere, CB Hoyng, B Wissinger. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am. J. Hum. Genet. 91:527-532 (2012). [PubMed]
S Kohl, T Marx, I Giddings, H Jägle, SG Jacobson, E Apfelstedt-Sylla, E Zrenner, LT Sharpe, B Wissinger. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat. Genet. 19:257-259 (1998). [PubMed]
S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, T Rosenberg, U Kellner, B Lorenz, R Salati, B Jurklies, A Farkas, S Andreasson, RG Weleber, SG Jacobson, G Rudolph, C Castellan, H Dollfus, E Legius, M Anastasi, et al., ..., B Wissinger. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur. J. Hum. Genet. 13:302-308 (2005). [PubMed]
S Kohl, D Zobor, W-C Chiang, N Weisschuh, J Staller, IG Menendez, S Chang, SC Beck, MG Garrido, V Sothilingam, MW Seeliger, F Stanzial, F Benedicenti, F Inzana, E Héon, A Vincent, J Beis, TM Strom, G Rudolph, et al., ..., B Wissinger, JH Lin. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat. Genet. 47:757-765 (2015). [PubMed]
L Köhn, MSI Burstedt, F Jonsson, K Kadzhaev, E Haamer, O Sandgren, I Golovleva. Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Invest. Ophthalmol. Vis. Sci. 49:3172-3177 (2008). [PubMed]
L Köhn, K Kadzhaev, MSI Burstedt, S Haraldsson, B Hallberg, O Sandgren, I Golovleva. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. Eur. J. Hum. Genet. 15:664-671 (2007). [PubMed]
TI Kojis, C Heinzmann, P Flodman, TJ Ngo, RS Sparkes, MA Spence, JB Bateman, JR Heckenlively. Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet. 58:347-355 (1996). [PubMed]
H Kremer, A Pinckers, B van den Helm, AF Deutman, H-H Ropers, ECM Mariman. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum. Mol. Genet. 3:299-302 (1994). [PubMed]
G Kremmidiotis, IL Lensink, RL Bilton, E Woollatt, TK Chataway, GR Sutherland, DF Callen. The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. Hum. Mol. Genet. 8:523-531 (1999). [PubMed]
A Kumanogoh, S Marukawa, K Suzuki, N Takegahara, C Watanabe, E Ch'ng, I Ishida, H Fujimura, S Sakoda, K Yoshida, H Kikutani. Class IV semaphorin Sema4A enhances T-cell activation and interacts with Tim-2. Nature 419:629-633 (2002). [PubMed]
A Kumar, J Shetty, B Kumar, SH Blanton. Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family. Mol. Vis. 10:399-402 (2004). [PubMed]
R Kumar-Singh, SA Jordan, GJ Farrar, P Humphries. Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus. Nuc. Acids Res. 19:5800 (1991). [PubMed]
A Kutkowska-Kaźmierczak, M Rydzanicz, A Chlebowski, K Kłosowska-Kosicka, A Mika, J Gruchota, E Jurkiewicz, C Kowalewski, A Pollak, TJ Stradomska, T Kmieć, R Jakubowski, P Gasperowicz, et al., ..., R Płoski. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. J. Med. Genet. 55:408-414 (2018). [PubMed]
T Kuznetsova, S Iwabe, K Boesze-Battaglia, S Pearce-Kelling, Y Chang-Min, K McDaid, K Miyadera, A Komaromy, GD Aguirre. Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. Invest. Ophthalmol. Vis. Sci. 53:5486-5501 (2012). [PubMed]
AE Kwitek-Black, R Carmi, GM Duyk, KH Buetow, K Elbedour, R Parvari, CN Yan.dava, EM Stone, VC Sheffield. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic heterogeneity. Nat. Genet. 5:392-396 (1993). [PubMed]
M Kyttälä, J Tallila, R Salonen, O Kopra, N Kohlschmidt, P Paavola-Sakki, L Peltonen, M Kestilä. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet. 38:155-157 (2006). [PubMed]
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PS Lagali, IM MacDonald, IB Griesinger, ML Chambers, R Ayyagari, PW Wong. Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family. Can. J. Ophthalmol. 35:315-324 (2000). [PubMed]
C Lagier-Tourenne, E Boltshauser, N Breivik, M Gribaa, C Bétard, C Barbot, M Koenig. Homozygosity mapping of a third Joubert syndrome locus to 6q23. J. Med. Genet. 41:273-277 (2004). [PubMed]
T Lamminen, A Majander, V Juvonen, M Wikstrom, P Aula, E Nikoskelainen, ML Savontous. A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 56:1238-1240 (1995). [PubMed]
T Langmann, SA Di Gioia, I Rau, H Stöhr, NS Maksimovic, JC Corbo, AB Renner, E Zrenner, G Kumaramanickavel, M Karlstetter, Y Arsenijevic, BHF Weber, A Gal, C Rivolta. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am. J. Hum. Genet. 87:376-381 (2010). [PubMed]
D Larget-Piet, S Gerber, D Bonneau, J-M Rozet, S Marc, I Ghazi, J-L Dufier, A David, P Bitoun, J Weissenbach, A Munnich, J Kaplan. Genetic heterogeneity of Usher syndrome type 1 in French families. Genomics 21:138-143 (1994). [PubMed]
RJ Leach, SS Banga, K Ben-Othame, S Chughtai, R Clarke, SP Daiger, ..., MM Sohocki, et al. Report of the Third International Workshop on Human Chromosome 8 Mapping 1996. Cytogenet. Cell Genet. 75:71-84 (1996). [PubMed]
B Lee, H Vissing, F Ramirez, D Rogers, D Rimoin. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 244:978-980 (1989). [PubMed]
C Lee, JB Wallingford, JM Gross. Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye. Invest. Ophthalmol. Vis. Sci. 55:4585-4592 (2014). [PubMed]
W-H Lee, R Bookstein, F Hong, L-J Young, Y-J Shew, EY-HP Lee. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 235:1394-1399 (1987). [PubMed]
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, M Alfadhel, M Al-Fadhel, RA Lewis, W Eyaid, E Banin, H Dollfus, PL Beales, JL Badano, N Katsanis. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. 40:443-448 (2008). [PubMed]
M Leppert, L Baird, KL Anderson, B Otterud, JR Lupski, RA Lewis. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat. Genet. 7:108-111 (1994). [PubMed]
O Le Saux, K Beck, C Sachsinger, C Silvestri, C Treiber, HHH Göring, EW Johnson, A De Paepe, FM Pope, I Pasquali-Ronchetti, L Bercovitch, S Terry, CD Boyd. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69:749-764 (2001). [PubMed]
O Le Saux, Z Urban, C Tschuch, K Csiszar, B Bacchelli, D Quaglino, I Pasquali-Ronchetti, FM Pope, A Richards, S Terry, L Bercovitch, A de Paepe, CD Boyd. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25:223-227 (2000). [PubMed]
J Leutelt, R Oehlmann. Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan. Clin. Genet. 47:122-124 (1995). [PubMed]
G Lévy, F Levi-Acobas, S Blanchard, S Gerber, D Larget-Piet, V Chenal, XZ Liu, V Newton, KP Steel, SDM Brown, A Munich, J Kaplan, C Petit, D Weil. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type 1B. Hum. Mol. Genet. 6:111-116 (1997). [PubMed]
RA Lewis, B Otterud, D Stauffer, J-M Lalouel, M Leppert. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 7:250-256 (1990). [PubMed]
RA Lewis, NF Shroyer, N Singh, R Allikmets, A Hutchinson, Y Li, JR Lupski, M Leppert, M Dean. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet. 64:422-434 (1999). [PubMed]
A Li, X Jiao, FL Munier, DF Schorderet, W Yao, F Iwata, M Hayakawa, A Kanai, MS Chen, RA Lewis, J Heckenlively, RG Weleber, EI Traboulsi, Q Zhang, X Xiao, M Kaiser-Kupfer, YV Sergeev, JF Hejtmancik. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am. J. Hum. Genet. 74:817-826 (2004). [PubMed]
JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich, H May-Simera, H Li, OE Blacque, L Li, CC Leitch, RA Lewis, JS Green, PS Parfrey, MR Leroux, WS Davidson, PL Beales, LM Guay-Woodford, BK Yoder, GD Stormo, N Katsanis, SK Dutcher. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell. 117:541-552 (2004). [PubMed]
L Li, X Jiao, I D'Atri, F Ono, R Nelson, C-C Chan, N Nakaya, Z Ma, Y Ma, X Cai, L Zhang, S Lin, A Hameed, BA Chioza, H Hardy, G Arno, S Hull, MI Khan, J Fasham, GV Harlalka, M Michaelides, AT Moore, ZH Coban Akdemir, et al., ..., JF Hejtmancik. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 14:e1007504 (2018). [PubMed]
L Li, ID Krantz, Y Deng, A Genin, AB Banta, CC Collins, M Qi, BJ Trask, WL Kuo, J Cochran, T Costa, MEM Pierpont, EB Rand, DA Piccoli, L Hood, NB Spinner. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16:243-251 (1997). [PubMed]
L Li, N Nakaya, VRM Chavali, Z Ma, X Jiao, PA Sieving, S Riazuddin, SI Tomarev, R Ayyagari, SA Riazuddin, JF Hejtmancik. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87:400-409 (2010). [PubMed]
N Li, H Mei, IM Macdonald, X Jiao, F Hejtmancik. Mutations in ASCC3L1 on chromosome 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. Invest. Ophthalmol. Vis. Sci. 51:1036-1043 (2009). [PubMed]
S Li, L Huang, X Xiao, X Jia, X Guo, Q Zhang. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. JAMA Ophthalmol. 9:1076-1083 (2014). [PubMed]
T Li, WK Franson, JW Gordon, EL Berson, TP Dryja. Continuous activation of phototransduction by K296E opsin is not the cause of photoreceptor degeneration. Invest. Ophthalmol. Vis. Sci. 36:423 (1995). [PubMed]
X Li, S Chen, Q Wang, DJ Zack, SH Snyder, J Borjigin. A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX. Proc. Natl. Acad Sci. USA 95:1876-1881 (1998). [PubMed]
Y Li, C Fuhrmann, E Schwinger, A Gal, H Laqua. The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. Am. J. Ophthalmol. 113:712-713 (1992). [PubMed]
Y Li, B Müller, C Fuhrmann, CE van Nouhuys, H Laqua, P Humphries, E Schwinger, A Gal. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am. J. Hum. Genet. 51:749-754 (1992a). [PubMed]
Z Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, AT Moore, GE Holder, AG Robson, AR Webster. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am. J. Hum. Genet. 85:711-719 (2009a). [PubMed]
M Linari, M Ueffing, F Manson, A Wright, T Meitinger, J Becker. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc. Natl. Acad. Sci. USA 96:1315-1320 (1999). [PubMed]
B Linder, A Hirmer, A Gal, K Rüther, HJ Bolz, C Winkler, B Laggerbauer, U Fischer. Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa. PLoS ONE 9:e111754 (2014). [PubMed]
A Lindstrand, EE Davis, CMB Carvalho, D Pehlivan, JR Willer, I-C Tsai, S Ramanathan, C Zuppan, A Sabo, D Muzny, R Gibbs, P Liu, RA Lewis, E Banin, JR Lupski, R Clark, N Katsanis. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am. J. Hum. Genet. 94:745-754 (2014). [PubMed]
A Lindstrand, S Frangakis, CMB Carvalho, EB Richardson, KA McFadden, JR Willer, D Pehlivan, P Liu, IL Pediaditakis, A Sabo, RA Lewis, E Banin, JR Lupski, EE Davis, N Katsanis. Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome. Am. J. Hum. Genet. 99:318-336 (2016). [PubMed]
GI Liou, Y Fei, NS Peachey, S Matragoon, S Wei, WS Blaner, Y Wang, C Liu, ME Gottesman, H Ripps. Early onset photoreceptor abnormalities induced by targeted disruption of the interphotoreceptor retinoid-binding protein gene. J. Neurosci. 18:4511-4520 (1998). [PubMed]
KW Littink, MM van Genderen, RWJ Collin, S Roosing, APM de Brouwer, FCC Riemslag, H Venselaar, AAHJ Thiadens, CB Hoyng, K Rohrschneider, AI den Hollander, FPM Cremers, LI van den Born. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest. Ophthalmol. Vis. Sci. 50:2344-2350 (2009). [PubMed]
Q Liu, J Zhou, SP Daiger, DB Farber, JR Heckenlively, JE Smith, LS Sullivan, J Zuo, AH Milam, EA Pierce. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest. Ophthalmol. Vis. Sci. 43:22-32 (2002). [PubMed]
Liu Y, Chen X, Xu Q, Gao X, Tam PO, Zhao K, Zhang X, Chen LJ, Jia W, Zhao Q, Vollrath D, Pang CP, Zhao C. SPP2 mutations cause autosomal dominant retinitis pigmentosa. Sci. Rep. 5:14867 (2015). [PubMed]
X Liu, IP Udovichenko, SD Brown, KP Steel, DS Williams. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci. 19:6267-6274 (1999a). [PubMed]
X Liu, G Vansant, IP Udovichenko, U Wolfrum, DS Williams. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil. Cytoskeleton 37:240-252 (1997b). [PubMed]
X-Z Liu, C Hope, CY Liang, JM Zou, LR Xu, T Cole, RF Mueller, S Bundey, W Nance, KP Steel, SD Brown. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am. J. Hum. Genet. 64:1221-1225 (1999). [PubMed]
X-Z Liu, C Hope, J Walsh, V Newton, XM Ke, CY Liang, LR Xu, JM Zhou, D Trump, KP Steel, S Bundey, SDM Brown. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am. J. Hum. Genet. 63:909-912 (1998). [PubMed]
X-Z Liu, VE Newton, KP Steel, SDM Brown. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum. Mutat. 10:168-170 (1997a). [PubMed]
X-Z Liu, J Walsh, P Mburu, J Kendrick-Jones, MJTV Cope, KP Steel, SDM Brown. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat. Genet. 16:188-190 (1997). [PubMed]
DR Lohmann, B Brandt, W Hopping, E Passarge, B Horsthemke. The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am. J. Hum. Genet. 58:940-949 (1996). [PubMed]
AJ Lotery, KT Ennis, G Silvestri, S Nicholl, D McGibbon, AD Collins, AE Hughes. Localization of a gene for central areolar choroidal dystrophy to chromosome 17p. Hum. Mol. Genet. 5:705-708 (1996). [PubMed]
AJ Lotery, SG Jacobson, GA Fishman, RG Weleber, AB Fulton, P Namperumalsamy, E Héon, AV Levin, S Grover, JR Rosenow, KK Kopp, VC Sheffield, EM Stone. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch. Ophthalmol. 119:415-420 (2001). [PubMed]
AJ Lotery, A Malik, SA Shami, M Sindhi, B Chohan, C Maqbool, PA Moore, MJ Denton, EM Stone. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic. Genet. 22:163-169 (2001a). [PubMed]
AJ Lotery, FL Munier, GA Fishman, RG Weleber, SG Jacobson, LM Affatigato, BE Nichols, DF Schorderet, VC Sheffield, EM Stone. Allelic variation in the VMD2 gene in Best disease and age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 41:1291-1296 (2000a). [PubMed]
AJ Lotery, P Namperumalsamy, SG Jacobson, RG Weleber, GA Fishman, MA Musarella, CS Hoyt, E Héon, A Levin, J Jan, B Lam, RE Carr, A Franklin, S Radha, JL Andorf, VC Sheffield, EM Stone. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch. Ophthalmol. 118:538-543 (2000). [PubMed]
A Lunkes, U Hartung, C Magarino, M Rodriguez, A Palmero, L Rodriguez, L Heredero, J Weissenbach, J Weber, G Auburger. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. Am. J. Hum. Genet. 57:968-970 (1995). [PubMed]
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X Ma, L Guan, W Wu, Y Zhang, W Zheng, Y-T Gao, J Long, N Wu, L Wu, Y Xiang, B Xu, M Shen, Y Chen, Y Wang, Y Yin, Y Li, H Xu, X Xu, Y Li. Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa. Sci. Rep. 5:9236 (2015). [PubMed]
F Macari, C Lautier, A Girardet, F Dadoun, P Darmon, A Dutour, E Renard, P Bouvagnet, M Claustres, C Oliver, F Grigorescu. Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. Hum. Genet. 103:658-661 (1998). [PubMed]
DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, N Waseem, SS Bhattacharya, MA Aldahmesh, FS Alkuraya, B Meyer, AR Webster, AT Moore. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol. Vis. 16:369-377 (2010). [PubMed]
VB Mahajan, JM Skeie, AG Bassuk, JH Fingert, TA Braun, HT Daggett, JC Folk, VC Sheffield, EM Stone. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet. 8:e1003001 (2012). [PubMed]
H Maita, H Kitaura, TJ Keen, CF Inglehearn, H Ariga, SMM Iguchi-Ariga. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp. Cell Res. 300:283-296 (2004). [PubMed]
N Maksimova, K Hara, I Nikolaeva, T Chun-Feng, T Usui, M Takagi, Y Nishihira, A Miyashita, H Fujiwara, T Oyama, A Nogovicina, A Sukhomyasova, S Potapova, R Kuwano, H Takahashi, M Nishizawa, O Onodera. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J. Med. Genet. 47:538-548 (2010). [PubMed]
JB Maller, JA Fagerness, RC Reynolds, BM Neale, MJ Daly, JM Seddon. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat. Genet. 39:1200-1201 (2007). [PubMed]
MA Mancini, B Shan, JA Nickerson, S Penman, W-H Lee. The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein. Proc. Natl. Acad. Sci. USA 91:418-422 (1994). [PubMed]
G Manes, M Hebrard, B Bocquet, I Meunier, D Coustes-Chazalette, A Sénéchal, A Bolland-Augé, D Zelenika, CP Hamel. A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. BMC Med. Genet. 12:54 (2011). [PubMed]
G Manes, I Meunier, A Avila-Fernández, S Banfi, G Le Meur, X Zanlonghi, M Corton, F Simonelli, P Brabet, G Labesse, I Audo, S Mohand-Said, C Zeitz, JA Sahel, M Weber, H Dollfus, C-M Dhaenens, D Allorge, E De Baere, et al., ..., CP Hamel. Mutations in IMPG1 cause vitelliform macular dystrophies. Am. J. Hum. Genet. 93:571-578 (2013). [PubMed]
FC Mansergh, S Millington-Ward, A Kennan, AS Kiang, M Humphries, GJ Farrar, P Humphries, PF Kenna. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am. J. Hum. Genet. 64:971-985 (1999). [PubMed]
C Marelli, C Hamel, M Quiles, B Carlander, L Larrieu, C Delettre, E Sarzi, D Chretien, P Rustin, M Koenig, C Guissart. ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia. Neurol. Genet 4:e225 (2018). [PubMed]
V Marion, F Stutzmann, M Gérard, C De Melo, E Schaefer, A Claussmann, S Hellé, V Delague, E Souied, C Barrey, A Verloes, C Stoetzel, H Dollfus. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly. J. Med. Genet. 49:317-321 (2012). [PubMed]
F Marlhens, C Bareil, J-M Griffoin, E Zrenner, P Amalric, C Eliaou, S-Y Liu, E Harris, TM Redmond, B Arnaud, M Claustres, CP Hamel. Mutations in RPE65 cause Leber's congenital amaurosis. Nat. Genet. 17:139-141 (1997). [PubMed]
AD Marmorstein, LY Marmorstein, M Rayborn, X Wang, JG Hollyfield, K Petrukhin. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc. Natl. Acad. Sci. USA 97:12758-12763 (2000). [PubMed]
LY Marmorstein, FL Munier, Y Arsenijevic, DF Schorderet, PJ McLaughlin, D Chung, E Traboulsi, AD Marmorstein. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc. Natl. Acad. Sci. USA 99:13067-13072 (2002). [PubMed]
A Marquardt, H Stöhr, LA Passmore, F Krämer, A Rivera, BHF Weber. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum. Mol. Genet. 7:1517-1525 (1998). [PubMed]
C-A Martin, I Ahmad, A Klingseisen, MS Hussain, LS Bicknell, A Leitch, G Nürnberg, MR Toliat, JE Murray, D Hunt, F Khan, Z Ali, S Tinschert, J Ding, C Keith, ME Harley, P Heyn, R Müller, I Hoffmann, VC Daire, H Dollfus, et al., ..., AP Jackson. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat. Genet. 46:1283-1292 (2014). [PubMed]
A Martínez-Mir, M Bayés, L Vilageliu, D Grinberg, C Ayuso, T del Rio, B García-Sandoval, E Bussaglia, M Baiget, R Gonzàlez-Duarte, S Balcells. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics 40:142-146 (1997). [PubMed]
A Martínez-Mir, E Paloma, R Allikmets, C Ayuso, Tdel Rio, M Dean, L Vilageliu, R Gonzàlez-Duarte, S Balcells. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat. Genet. 18:11-12 (1998). [PubMed]
A Martínez-Mir, C Vilela, M Bayes, D Valverde, L Dain, M Beneyto, M Marco, M Baiget, D Grinberg, S Balcells, R Gonzalez-Duarte, L Vilageliu. Putative association of a mutant ROM1 allele with retinitis pigmentosa. Hum. Genet. 99:827-830 (1997a). [PubMed]
Y Mashima, Y Hiida, Y Oguchi, J Kudoh, N Shimizu. High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. Hum. Genet. 92:101-102 (1993). [PubMed]
P Massin, PJ Guillausseau, B Vialettes, V Paquis, F Orsini, AD Grimaldi, A Gaudric. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am. J. Ophthalmol. 120:247-248 (1995). [PubMed]
M Masu, H Iwakabe, Y Tagawa, T Miyoshi, M Yamashita, Y Fukuda, H Sasaki, K Hiroi, Y Nakamura, R Shigemoto, M Takada, K Nakamura, K Nakao, M Katsuki, S Nakanishi. Specific deficits of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell 80:757-765 (1995). [PubMed]
A Maugeri, BJ Klevering, K Rohrschneider, A Blankenagel, HG Brunner, AF Deutman, CB Hoyng, FPM Cremers. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am. J. Hum. Genet. 67:960-966 (2000). [PubMed]
TA Mavlyutov, H Zhao, PA Ferreira. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum. Mol. Genet. 11:1899-1907 (2002). [PubMed]
MA Maw, D Corbeil, J Koch, A Hellwig, JC Wilson-Wheeler, RJ Bridges, G Kumaramanickavel, S John, D Nancarrow, K Röper, A Weigmann, WB Huttner, MJ Denton. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum. Mol. Genet. 9:27-34 (2000). [PubMed]
MA Maw, S John, S Jablonka, B Muller, G Kumaramanickavel, R Oehlmann, MJ Denton, A Gal. Oguchi disease: suggestion of linkage to markers on chromosome 2q. J. Med. Genet. 32:396-398 (1995). [PubMed]
MA Maw, B Kennedy, A Knight, R Bridges, KE Roth, EJ Mani, JK Mukkadan, D Nancarrow, JW Crabb, MJ Denton. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat. Genet. 17:198-200 (1997). [PubMed]
M Maw, G Kumaramanickavel, B Kar, S John, R Bridges, M Denton. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. Hum. Mutat. 1:S317-S319 (1998). [PubMed]
P Mburu, M Mustapha, A Varela, D Weil, A El-Amraoui, RH Holme, A Rump, RE Hardisty, S Blanchard, RS Coimbra, I Perfettini, N Parkinson, A-M Mallon, P Glenister, MJ Rogers, AJ Paige, L Moir, J Clay, A Rosenthal, XZ Liu, et al., ..., SDM Brown. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat. Genet. 34:421-428 (2003). [PubMed]
DP McEwen, RK Koenekoop, H Khanna, PM Jenkins, I Lopez, A Swaroop, JR Martens. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc. Natl Acad. Sci. USA 104:15917-15922 (2007). [PubMed]
TL McGee, M Devoto, J Ott, EL Berson, TP Dryja. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am. J. Hum. Genet. 61:1059-1066 (1997). [PubMed]
RE McGuire, AM Gannon, LA Sadler-Sullivan, JA Rodriguez, SP Daiger. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum. Genet. 95:71-74 (1995). [PubMed]
RE McGuire, SA Jordan, VV Braden, GG Bouffard, P Humphries, ED Green, SP Daiger. Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Genome Res. 6:255-266 (1996). [PubMed]
RE McGuire, LS Sullivan, SH Blanton, M Church, JR Heckenlively, SP Daiger. X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am. J. Hum. Genet. 57:87-94 (1995a). [PubMed]
GJ McKay, S Clarke, JA Davis, DAC Simpson, G Silvestri. Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. Invest. Ophthalmol. Vis. Sci. 46:322-328 (2005). [PubMed]
AB McKie, JC McHale, TJ Keen, EE Tarttelin, R Goliath, JJC van Lith-Verhoeven, J Greenberg, RS Ramesar, CB Hoyng, FPM Cremers, DA Mackey, SS Bhattacharya, AC Bird, AF Markham, CF Inglehearn. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum. Mol. Genet. 10:1555-1562 (2001). [PubMed]
ME McLaughlin, TL Ehrhart, EL Berson, TP Dryja. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92:3249-3253 (1995). [PubMed]
ME McLaughlin, MA Sandberg, EL Berson, TP Dryja. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4:130-134 (1993). [PubMed]
DR McMillan, KM Kayes-Wandover, JA Richardson, PC White. Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system. J. Biol. Chem. 277:785-792 (2002). [PubMed]
P McWilliams, GJ Farrar, P Kenna, DG Bradley, MM Humphries, EM Sharp, DJ McConnell, M Lawler, D Shiels, C Ryan, K Stephens, SP Daiger, P Humphries. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 5:619-622 (1989). [PubMed]
AJ Mears, L Gieser, D Yan, C Chen, S Fahrner, S Hiriyanna, R Fujita, SG Jacobson, PA Sieving, A Swaroop. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am. J. Hum. Genet. 64:897-900 (1999). [PubMed]
AJ Mears, S Hiriyanna, R Vervoort, B Yashar, L Gieser, S Fahrner, SP Daiger, JR Heckenlively, PA Sieving, AF Wright, A Swaroop. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am. J. Hum. Genet. 67:1000-1003 (2000). [PubMed]
AJ Mears, M Kondo, PK Swain, Y Takada, RA Bush, TL Saunders, PA Sieving, A Swaroop. Nrl is required for rod photoreceptor development. Nat. Genet. 29:447-452 (2001). [PubMed]
S Mechaussier, B Almoallem, C Zeitz, K Van Schil, L Jeddawi, J Van Dorpe, A Dueñas Rey, C Condroyer, O Pelle, M Polak, N Boddaert, N Bahi-Buisson, M Cavallin, J-L Bacquet, A Mouallem-Béziêre, O Zambrowski, JA Sahel, et al., ..., I Perrault. Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement. Am. J. Hum. Genet. 106:859-871 (2020). [PubMed]
A Meindl, W Berger, T Meitinger, D van de Pol, H Achatz, C Dorner, M Hassemann, H Hellbrand, A Gal, F Cremers, H-H Ropers. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat. Genet. 2:139-143 (1992). [PubMed]
A Meindl, K Dry, K Herrmann, F Manson, A Ciccodicola, A Edgar, MRS Carvalho, H Achatz, H Hellebrand, A Lennon, C Migliaccio, K Porter, E Zrenner, A Bird, M Jay, B Lorenz, B Wittwer, M D'Urso, T Meitinger, A Wright. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat. Genet. 13:35-42 (1996). [PubMed]
A Meindl, B Lorenz, H Achatz, H Hellebrand, P Schmitz-Valckenberg, T Meitinger. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Hum. Mol. Genet. 4:489-490 (1995). [PubMed]
M Meins, G Grüning, A Blankenagel, H Krastel, B Reck, S Fuchs, E Schwinger, A Gal. Heterozygous 'null' mutation in the human peripherin/RDS gene. Hum. Mutat. 12:2181-2182 (1993). [PubMed]
FM Meire, AA Bergen, A De Rouck, M Leys, JW Dellman. X linked progressive cone dystrophy. Localization of the gene to Xp21-p11.1 by linkage analysis. Br. J. Ophthalmol. 78:103-108 (1994). [PubMed]
C Méjécase, S Mohand-Saïd, S El Shamieh, A Antonio, C Condroyer, S Blanchard, M Letexier, J-P Saraiva, J-A Sahel, I Audo, C Zeitz. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clin. Genet. 93:707-711 (2018). [PubMed]
A Melamud, G-Q Shen, D Chung, Q Xi, E Simpson, L Li, NS Peachey, H Zegarra, SA Hagstrom, QK Wang, EI Traboulsi. Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. J. Med. Genet. 43:e27 (2006). [PubMed]
CS Mellersh, MEG Boursnell, L Pettitt, EJ Ryder, NG Holmes, D Grafham, OP Forman, J Sampson, KC Barnett, S Blanton, MM Binns, M Vaudin. Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88:293-301 (2006). [PubMed]
M Menotti-Raymond, VA David, AA Schäffer, R Stephens, D Wells, R Kumar-Singh, SJ O'Brien, K Narfström. Mutation in CEP290 discovered for cat model of human retinal degeneration. J. Hered. 98:211-220 (2007). [PubMed]
M Menotti-Raymond, KH Deckman, V David, J Myrkalo, SJ O'Brien, K Narfström. Mutation discovered in a feline model of human congenital retinal blinding disease. Invest. Ophthalmol. Vis. Sci. 51:2852-2859 (2010). [PubMed]
MD Metodiev, S Gerber, L Hubert, A Delahodde, D Chretien, X Gérard, P Amati-Bonneau, M-C Giacomotto, N Boddaert, A Kaminska, I Desguerre, J Amiel, M Rio, J Kaplan, A Munnich, A Rötig, JM Rozet, C Besmond. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J. Med. Genet. 51:834-838 (2014). [PubMed]
I Meunier, G Lenaers, B Bocquet, C Baudoin, C Piro-Megy, A Cubizolle, M Quilès, A Jean-Charles, SY Cohen, H Merle, A Gaudric, G Labesse, G Manes, M Péquignot, C Cazevieille, C-M Dhaenens, A Fichard, N Ronkina, SJ Arthur, M Gaestel, CP Hamel. A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. Hum. Mol. Genet. 25:916-926 (2016). [PubMed]
I Meunier, G Manes, B Bocquet, V Marquette, C Baudoin, B Puech, S Defoort-Dhellemmes, I Audo, R Verdet, C Arndt, X Zanlonghi, G Le Meur, C-M Dhaenens, CP Hamel. Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. Ophthalmology 121:2406-2414 (2014). [PubMed]
E Meyer, M Michaelides, LJ Tee, AG Robson, F Rahman, S Pasha, LM Luxon, AT Moore, ER Maher. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. Mol. Vis. 16:650-664 (2010). [PubMed]
M Michaelides, IA Aligianis, JR Ainsworth, P Good, JD Mollon, ER Maher, AT Moore, DM Hunt. Progressive cone dystrophy associated with mutation in CNGB3. Invest. Ophthalmol. Vis. Sci. 45:1975-1982 (2004a). [PubMed]
M Michaelides, A Bloch-Zupan, GE Holder, DM Hunt, AT Moore. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J. Med. Genet. 41:468-473 (2004). [PubMed]
M Michaelides, SA Jenkins, D-E Bamiou, MG Sweeney, MB Davis, L Luxon, AC Bird, PP Rath. Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Arch. Ophthalmol. 126:320-328 (2008). [PubMed]
M Michaelides, S Johnson, A Poulson, K Bradshaw, C Bellmann, DM Hunt, AT Moore. An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. Invest. Ophthalmol. Vis. Sci. 44:1657-1662 (2003). [PubMed]
M Michaelides, S Johnson, AK Tekriwal, GE Holder, C Bellmann, E Kinning, G Woodruff, RC Trembath, DM Hunt, AT Moore. An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. Invest. Ophthalmol. Vis. Sci. 44:2178-2183 (2003a). [PubMed]
SJ Mihalik, JC Morrell, D Kim, KA Sacksteder, PA Watkins, SJ Gould. Identification of PAHX, a Refsum disease gene. Nat. Genet. 17:185-189 (1997). [PubMed]
AH Milam, AE Hendrickson, M Xiao, JE Smith, DE Possin, JK John, PM Nishina. Localization of the tubby-like protein 1 in developing and adult human retinas. Invest. Ophthalmol. Vis. Sci. 41:2352-2356 (2000). [PubMed]
JM Millán, F Martínez, C Vilela, M Beneyto, F Prieto, C Nájera. An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. Hum. Genet. 96:216-218 (1995). [PubMed]
T Millo, A Rivera, A Obolensky, D Marks-Ohana, M Xu, Y Li, E Wilhelm, P Gopalakrishnan, M Gross, B Rosin, M Hanany, A Webster, AM Tracewska, RK Koenekoop, R Chen, G Arno, O Schueler-Furman, S Roosing, E Banin, D Sharon. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet. Med 24:1523-1535 (2022). [PubMed]
A Milunsky, XL Huang, J Milunsky, A DeStefano, CT Baldwin. A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin. Genet. 56:82-85 (1999). [PubMed]
Y Minegishi, N Nakaya, SI Tomarev. Mutation in the zebrafish cct2 gene leads to abnormalities of cell cycle and cell death in the retina: a model of CCT2-related Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 59:995-1004 (2018). [PubMed]
Y Minegishi, X Sheng, K Yoshitake, Y Sergeev, D Iejima, Y Shibagaki, N Monma, K Ikeo, M Furuno, W Zhuang, Y Liu, W Rong, S Hattori, T Iwata. CCT2 mutations evoke Leber congenital amaurosis due to chaperone complex instability. Sci. Rep. 6:33742 (2016). [PubMed]
SJ Mitchell, DP McHale, DA Campbell, NJ Lench, RF Mueller, SE Bundey, AF Markham. A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. Am. J. Hum. Genet. 62:1070-1076 (1998). [PubMed]
HM Mitchison, SL Hofmann, CHR Becerra, PB Munroe, BD Lake, YJ Crow, JBP Stephenson, RE Williams, IL Hofman, PEM Taschner, J-J Martin, M Philippart, E Andermann, F Andermann, Se Mole, RM Gardiner, AM O'Rawe. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum. Mol. Genet. 7:291-297 (1998). [PubMed]
HM Mitchison, PB Munroe, AM O'Rawe, PE Taschner, N de Vos, G Kremmidiotis, I Lensink, AC Munk, KL D'Arigo, JW Anderson, TJ Lerner, RK Moyzis, DF Callen, MH Breuning, NA Doggett, RM Gardiner, SE Mole. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 40:346-350 (1997). [PubMed]
HM Mitchison, AM O'Rawe, TJ Lerner, PE Taschner, K Schlumpf, K D'Arigo, N de Vos, E Gormally, HA Phillips, AD Thompson, et al. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. Am. J. Hum. Genet. 57:312-315 (1995). [PubMed]
HM Mitchison, AM O'Rawe, PE Taschner, LA Sandkuijl, P Santavuori, N de Vos, MH Breuning, SE Mole, RM Gardiner, IE Jarvela. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. Am. J. Hum. Genet. 56:654-662 (1995a). [PubMed]
T Miyamoto, H Inoue, Y Sakamoto, E Kudo, T Naito, T Mikawa, Y Mikawa, Y Isashiki, D Osabe, S Shinohara, H Shiota, M Itakura. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest. Ophthalmol. Vis. Sci. 46:2726-2735 (2005). [PubMed]
T Mochizuki, Y Saijoh, K Tsuchiya, Y Shirayoshi, S Takai, C Taya, H Yonekawa, K Yamada, H Nihei, N Nakatsuji, PA Overbeek, H Hamada, T Yokoyama. Cloning of inv, a gene that controls left/right asymmetry and kidney development. Nature 395:177-181 (1998). [PubMed]
Z Mohamed, C Bell, HM Hammer, CA Converse, L Esakowitz, NE Haites. Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. J. Med. Genet. 33:714-715 (1996). [PubMed]
LL Molday, AR Rabin, RS Molday. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat. Genet. 25:257-258 (2000). [PubMed]
G Mollet, R Salomon, O Gribouval, F Silbermann, D Bacq, G Landthaler, D Milford, A Nayir, G Rizzoni, C Antignac, S Saunier. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet. 32:300-305 (2002). [PubMed]
D Morgan, L Turnpenny, J Goodship, W Dai, K Majumder, L Matthews, A Gardner, G Schuster, L Vien, W Harrison, FF Elder, M Penman-Splitt, P Overbeek, T Strachan. Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nat. Genet. 20:149-156 (1998). [PubMed]
CW Morgans. Localization of the alpha(1F) calcium channel subunit in the rat retina. Invest. Ophthalmol. Vis. Sci. 42:2414-2418 (2001). [PubMed]
H Morimura, EL Berson, TP Dryja. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest. Ophthalmol. Vis. Sci. 40:1000-1004 (1999). [PubMed]
H Morimura, GA Fishman, SA Grover, AB Fulton, EL Berson, TP Dryja. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc. Natl. Acad. Sci. USA 95:3088-3093 (1998). [PubMed]
H Morimura, F Saindelle-Ribeaudeau, EL Berson, TP Dryja. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat. Genet. 23:393-394 (1999a). [PubMed]
SE Mortimer, L Hedstrom. Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding. Biochem. J. 390:41-47 (2005). [PubMed]
SE Mortimer, D Xu, D McGrew, N Hamaguchi, HC Lim, SJ Bowne, SP Daiger, L Hedstrom. IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. J. Biol. Chem. 283:36354-36360 (2008). [PubMed]
AM Motley, EH Hettema, EM Hogenhout, P Brites, AL ten Asbroek, FA Wijburg, F Baas, HS Heijmans, HF Tabak, RJ Wanders, B Distel. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat. Genet. 15:377-380 (1997). [PubMed]
N Mueller, T Sassa, S Morales-Gonzalez, J Schneider, DJ Salchow, D Seelow, E Knierim, W Stenzel, A Kihara, M Schuelke. De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. J. Med. Genet. 56:164-175 (2019). [PubMed]
A Mukhopadhyay, K Nikopoulos, A Maugeri, APM de Brouwer, CE van Nouhuys, CJF Boon, R Perveen, HAA Zegers, D Wittebol-Post, PR van den Biesen, SD van der Velde-Visser, HG Brunner, GCM Black, CB Hoyng, FPM Cremers. Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest. Ophthalmol. Vis. Sci. 47:3565-3572 (2006). [PubMed]
B Müller, U Orth, CE van Nouhuys, C Duvigneau, C Fuhrmann, E Schwinger, H Laqua, AS Gal. Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. Genomics 20:317-319 (1994). [PubMed]
PB Munroe, HM Mitchison, AM O'Rawe, JW Anderson, RM Boustany, TJ Lerner, PE Taschner, N de Vos, MH Breuning, RM Gardiner, SE Mole. Spectrum of mutations in the Batten disease gene, CLN3. Am. J. Hum. Genet. 61:310-316 (1997). [PubMed]
KG Muradov, NO Artemyev. Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness. J. Biol. Chem. 275:6969-6974 (2000). [PubMed]
MA Musarella, L Anson-Cartwright, SM Leal, LD Gilbert, RG Worton, GA Fishman, J Ott. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics 8:286-296 (1990). [PubMed]
MA Musarella, RG Weleber, WH Murphey, RSL Young, L Anson-Cartwright, M Mets, SP Kraft, R Polemeno, M Litt, RG Worton. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics 5:727-737 (1989). [PubMed]
M Mustapha, E Chouery, S Chardenoux, M Naboulsi, J Paronnaud, A Lemainque, A Mégarbané, J Loiselet, D Weil, M Lathrop, C Petit. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur. J. Hum. Genet. 10:210-212 (2002). [PubMed]
M Mustapha, E Chouery, D Torchard-Pagnez, S Nouaille, A Khrais, FN Sayegh, A Mégarbané, J Loiselet, M Lathrop, C Petit, D Weil. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum. Genet. 110:348-350 (2002). [PubMed]
K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, AF Wright, A Iannaccone, K Elbedour, R Riise, A Baldi, A Raas-Rothschild, SW Gorman, DM Duhl, SG Jacobson, T Casavant, EM Stone, VC Sheffield. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat. Genet. 28:188-191 (2001). [PubMed]
K Mykytyn, DY Nishimura, CC Searby, M Shastri, H-J Yen, JS Beck, T Braun, LM Streb, AS Cornier, GF Cox, AB Fulton, R Carmi, G Lüleci, SC Chandrasekharappa, FS Collins, SG Jacobson, JR Heckenlively, RG Weleber, EM Stone, VC Sheffield. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat. Genet. 31:435-438 (2002). [PubMed]
[ Top of Page | Home Page ]
N Nadal, MO Rolland, C Tranchant, L Reutenauer, G Gyapay, JM Warter, JL Mandel, M Koenig. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Mol. Genet. 4:1963-1966 (1995). [PubMed]
MA Naeem, VRM Chavali, S Ali, M Iqbal, S Riazuddin, SN Khan, T Husnain, PA Sieving, R Ayyagari, S Riazuddin, JF Hejtmancik, SA Riazuddin. GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest. Ophthalmol. Vis. Sci. 53:1353-1361 (2012). [PubMed]
M Nakamura, Y Hotta, A Tanikawa, H Terasaki, Y Miyake. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest. Ophthalmol. Vis. Sci. 41:3925-3932 (2000). [PubMed]
M Nakamura, S Ito, C-H Piao, H Terasaki, Y Miyake. Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. Arch. Ophthalmol. 121:1028-1033 (2003). [PubMed]
J Nakayama, Y-H Fu, AM Clark, S Nakahara, K Hamano, N Iwasaki, A Matsui, T Arinami, LJ Ptácek. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann. Neurol. 52:654-657 (2002). [PubMed]
M Nakazawa, E Kikawa, Y Chida, M Tamai. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration. Hum. Mol. Genet. 3:1195-1196 (1994a). [PubMed]
M Nakazawa, Y Wada, M Tamai. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 116:498-501 (1998). [PubMed]
P Namburi, R Ratnapriya, S Khateb, CH Lazar, Y Kinarty, A Obolensky, I Erdinest, D Marks-Ohana, E Pras, T Ben-Yosef, H Newman, M Gross, A Swaroop, E Banin, D Sharon. Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss. Am. J. Hum. Genet. 99:777-784 (2016). [PubMed]
TME Narcisi, CC Shoulders, SA Chester, J Read, DJ Brett, GB Harrison, TT Grantham, MF Fox, S Povey, TWA de Bruin, DW Erkelens, DPR Muller, KL Lloyd, J Scott. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am. J. Hum. Genet. 57: 1298-1310 (1995). [PubMed]
I Nasonkin, M Illing, MR Koehler, M Schmid, RS Molday, BH Weber. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum. Genet. 102:21-26 (1998). [PubMed]
J Nathans, CM Davenport, IH Maumenee, RA Lewis, JF Hejtmancik, M Litt, E Lovrien, R Weleber, B Bachynski, F Zwas, R Klingaman, G Fishman. Molecular genetics of human blue cone monochromacy. Science 245:831-838 (1989). [PubMed]
J Nathans, DS Hogness. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Science 232:203-210 (1984). [PubMed]
J Nathans, IH Maumenee, E Zrenner, B Sadowski, LT Sharpe, RA Lewis, E Hansen, T Rosenberg, et al., ..., RG Weleber. Genetic heterogeneity among blue-cone monochromats. Am. J. Hum. Genet. 53:987-1000 (1993). [PubMed]
J Nathans, SL Merbs, C-H Sung, CJ Weitz, Y Wang. Molecular genetics of human visual pigments. Ann. Rev. Genet. 26:403-424 (1992). [PubMed]
J Nathans, D Thomas, DS Hogness. Molecular genetics of human color vision: the genes encoding blue, green and red pigments. Science 193:193-232 (1986). [PubMed]
S Naz, AJ Griffith, S Riazuddin, LL Hampton, JF Battey, SN Khan, S Riazuddin, ER Wilcox, TB Friedman. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J. Med. Genet. 41:591-595 (2004). [PubMed]
S Naz, SA Riazuddin, L Li, M Shahid, S Kousar, PA Sieving, JF Hejtmancik, S Riazuddin. A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. Am. J. Ophthalmol. 149:861-866 (2010). [PubMed]
M Neitz, J Neitz. Numbers and ratios of visual pigment genes for normal red-green color vision. Science 267:1013-1016 (1995). [PubMed]
MJ Nevet, SA Shalev, J Zlotogora, N Mazzawi, T Ben-Yosef. Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. J. Med. Genet. 47:533-537 (2010). [PubMed]
BE Nichols, R Bascom, M Litt, R McInnes, VC Sheffield, EM Stone. Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. Am. J. Hum. Genet. 54:95-103 (1994). [PubMed]
BE Nichols, AV Drake, K Vandenburgh, AE Kimura, VC Sheffield, EM Stone. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum. Mol. Genet. 2:601-603 (1993). [PubMed]
BE Nichols, VC Sheffield, K Vandenburgh, AV Drack, AE Kimura, EM Stone. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat. Genet. 3:202-206 (1993a). [PubMed]
K Nikopoulos, P Farinelli, B Giangreco, C Tsika, B Royer-Bertrand, MK Mbefo, N Bedoni, U Kjellström, I El Zaoui, SA Di Gioia, S Balzano, K Cisarova, A Messina, S Decembrini, S Plainis, SV Blazaki, MI Khan, S Micheal, K Boldt, et al., ..., C Rivolta. Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defects. Am. J. Hum. Genet. 99:770-776 (2016). [PubMed]
K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, EAW Blokland, P Arts, N Wieskamp, TM Strom, C Ayuso, MAD Tilanus, S Bouwhuis, A Mukhopadhyay, H Scheffer, LH Hoefsloot, JA Veltman, FPM Cremers, RWJ Collin. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am. J. Hum. Genet. 86:240-247 (2010). [PubMed]
EK Nikoskelainen, K Huoponen, V Juvonen, T Lamminen, K Nummelin, ML Savontaus. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmol. 103:504-514 (1996). [PubMed]
KM Nishiguchi, JS Friedman, MA Sandberg, A Swaroop, EL Berson, TP Dryja. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc. Natl. Acad. Sci. USA 51:17819-17824 (2004a). [PubMed]
KM Nishiguchi, MA Sandberg, N Gorji, EL Berson, TP Dryja. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum. Mutat. 25:248-258 (2005). [PubMed]
KM Nishiguchi, MA Sandberg, AC Kooijman, KA Martemyanov, JW Pott, SA Hagstrom, VY Arshavsky, EL Berson, TP Dryja. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 427:75-78 (2004). [PubMed]
KM Nishiguchi, RG Tearle, YP Liu, EC Oh, N Miyake, P Benaglio, S Harper, H Koskiniemi-Kuendig, G Venturini, D Sharon, RK Koenekoop, M Nakamura, M Kondo, S Ueno, TR Yasuma, JS Beckmann, S Ikegawa, N Matsumoto, H Terasaki, EL Berson, N Katsanis, C Rivolta. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc. Natl. Acad. Sci. USA 110:16139-16144 (2013). [PubMed]
DY Nishimura, LM Baye, R Perveen, CC Searby, A Avila-Fernandez, I Pereiro, C Ayuso, D Valverde, PN Bishop, FDC Manson, J Urquhart, EM Stone, DC Slusarski, GCM Black, VC Sheffield. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am. J. Hum. Genet. 86:686-695 (2010). [PubMed]
DY Nishimura, CC Searby, R Carmi, K Elbedour, LVan Maldergem, AB Fulton, BL Lam, BR Powell, RE Swiderski, KE Bugge, NB Haider, AE Kwitek-Black, L Ying, DM Duhl, SW Gorman, E Héon, A Iannaccone, D Bonneau, LG Biesecker, SG Jacobson, EM Stone, VC Sheffield. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum. Mol. Genet. 10:865-874 (2001). [PubMed]
DY Nishimura, RE Swiderski, CC Searby, EM Berg, AL Ferguson, R Hennekam, S Merin, RG Weleber, LG Biesecker, EM Stone, VC Sheffield. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am. J. Hum. Genet. 77:1021-1033 (2005). [PubMed]
A Noor, C Windpassinger, M Patel, B Stachowiak, A Mikhailov, M Azam, M Irfan, ZK Siddiqui, F Naeem, AD Paterson, M Lutfullah, JB Vincent, M Ayub. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am. J. Hum. Genet. 82:1011-1018 (2008). [PubMed]
RL Nussbaum, RA Lewis, JG Lesko, R Ferrell. Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at Xq13-21. Am. J. Hum. Genet. 37:473-481 (1985). [PubMed]
A Nystuen, H Costeff, ON Elpeleg, N Apter, B Bonné-Tamir, H Mohrenweiser, N Haider, EM Stone, VC Sheffield. Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. Hum. Mol. Genet. 6: 563-569 (1997). [PubMed]
[ Top of Page | Home Page ]
T Oda, AG Elkahloun, PS Meltzer, SC Chandrasekharappa. Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. Genomics 43:376-379 (1997). [PubMed]
T Oda, AG Elkahloun, BL Pike, K Okajima, ID Krantz, A Genin, DA Piccoli, PS Meltzer, NB Spinner, FS Collins, SC Chandrasekharappa. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat. Genet. 16:235-242 (1997a). [PubMed]
R Ofri, CM Reilly, DJ Maggs, PG Fitzgerald, Y Shilo-Benjamini, KL Good, RA Grahn, DD Splawski, LA Lyons. Characterization of an early-onset, autosomal recessive, progressive retinal degeneration in Bengal cats. Invest Ophthalmol Vis Sci 56:5299-5308 (2015). [PubMed]
H Olbrich, M Fliegauf, J Hoefele, A Kispert, E Otto, A Volz, MT Wolf, G Sasmaz, U Trauer, R Reinhardt, R Sudbrak, C Antignac, N Gretz, G Walz, B Schermer, T Benzing, F Hildebrandt, H Omran. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34:455-459 (2003). [PubMed]
G Olivier, M Corton, D Intartaglia, SK Verbakel, PI Sergouniotis, G Le Meur, C-M Dhaenens, H Naacke, A Avila-Fernández, CB Hoyng, J Klevering, B Bocquet, A Roubertie, A Sénéchal, S Banfi, A Muller, CL Hamel, et al., ..., G Manes. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. J. Med. Genet. 58:570-578 (2020). [PubMed]
Online Mendelian Inheritance in Man (TM). Center for Medical Genetics, Johns Hopkins University, and National Center for Biotechnology Information, National Library of Medicine. http://www.ncbi.nlm.nih.gov/omim/ (2017). OMIM
Y Omori, T Chaya, K Katoh, N Kajimura, S Sato, K Muraoka, S Ueno, T Koyasu, M Kondo, T Furukawa. Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc. Natl. Acad. Sci. USA 107:22671-22676 (2010). [PubMed]
H Omran, C Fernandez, M Jung, K Häffner, B Fargier, A Villaquiran, R Waldherr, N Gretz, M Brandis, F Rüschendorf, A Reis, F Hildebrandt. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. Am. J. Hum. Genet. 66:118-127 (2000). [PubMed]
H Omran, K Häffner, S Burth, C Fernandez, B Fargier, A Villaquiran, H-G Nothwang, S Schnittger, H Lehrach, D Woo, M Brandis, R Sudbrak, F Hildebrandt. Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. J. Am. Soc. Nephrol. 12:107-113 (2001). [PubMed]
H Omran, G Sasmaz, K Häffner, A Volz, H Olbrich, R Melkaoui, E Otto, TF Wienker, R Korinthenberg, M Brandis, C Antignac, F Hildebrandt. Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene. J. Am. Soc. Nephrol. 13:75-79 (2002). [PubMed]
RA Ophoff, J DeYoung, SK Service, M Joosse, NA Caffo, LA Sandkuijl, GM Terwindt, J Haan, AMJM van den Maagdenberg, J Jen, RW Baloh, M-L Barilla-LaBarca, NL Saccone, JP Atkinson, MD Ferrari, NB Freimer, RR Frants. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am. J. Hum. Genet. 69:447-453 (2001). [PubMed]
U Orth, C Samanns, H Gusseck, G Niemeyer, M Ludwig, T Meitinger, A Schinzel, E Schwinger, A Gal. Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity. Fortschr. Ophthalmol. 88:455-459 (1991). [PubMed]
E Ostergaard, M Batbayli, M Duno, K Vilhelmsen, T Rosenberg. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. J. Med. Genet. 47:665-669 (2010). [PubMed]
E Ostergaard, M Duno, M Batbayli, K Vilhelmsen, T Rosenberg. A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases. Mol. Vis. 17:1485-1492 (2011). [PubMed]
P Ostergaard, MA Simpson, A Mendola, P Vasudevan, FC Connell, A van Impel, AT Moore, BL Loeys, A Ghalamkarpour, A Onoufriadis, I Martinez-Corral, S Devery, JG Leroy, L van Laer, A Singer, MG Bialer, M McEntagart, et al., ..., S Jeffery. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am. J. Hum. Genet. 90:356-362 (2012). [PubMed]
JF O'Toole, EA Otto, Y Frishberg, F Hildebrandt. Retinitis pignmentosa and renal failure in a patient with a mutation in INVS. Nephrol. Dial. Transplant. 21:1989-1991 (2006). [PubMed]
J Ott, S Bhattacharya, JD Chen, MJ Denton, J Donald, C DuBay, GJ Farrar, GA Fishman, D Frey, A Gal, P Humphries, B Jay, M Jays, M Litt, M Machler, M Musarella, M Neugebauer, RL Nussbaum, JD Terwilliger, RG Weleber, B Wirth, F Wong, RG Worton, AF Wright. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc. Natl. Acad. Sci. USA 87:701-704 (1990). [PubMed]
EA Otto, J Hoefele, R Ruf, AM Mueller, KS Hiller, MTF Wolf, MJ Schuermann, A Becker, R Birkenhäger, R Sudbrak, HC Hennies, P Nürnberg, F Hildebrandt. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am. J. Hum. Genet. 71:1161-1167 (2002). [PubMed]
EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, AK Ghosh, CA Murga-Zamalloa, J van Reeuwijk, SJ Letteboer, L Sang, RH Giles, Q Liu, KL Coene, A Estrada-Cuzcano, RW Collin, HM McLaughlin, S Held, et al., à, F Hildebrandt. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat. Genet. 42:840-850 (2010a). [PubMed]
EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, AK Ghosh, CA Murga-Zamalloa, J van Reeuwijk, SJF Letteboer, L Sang, RH Giles, Q Liu, KLM Coene, A Estrada-Cuzcano, RWJ Collin, HM McLaughlin, et al., ..., F Hildebrant. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat. Genet. 42:840-850 (2010). [PubMed]
EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, JF O'Toole, J Helou, M Attanasio, B Utsch, JA Sayer, C Lillo, D Jimeno, P Coucke, A De Paepe, R Reinhardt, S Klages, M Tsuda, I Kawakami, T Kusakabe, et al., ..., F Hildebrandt. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet. 37:282-288 (2005). [PubMed]
EA Otto, B Schermer, T Obara, JF O'Toole, KS Hiller, AM Mueller, RG Ruf, J Hoefele, F Beekmann, D Landau, JW Foreman, JA Goodship, T Strachan, A Kispert, MT Wolf, MF Gagnadoux, H Nivet, C Antignac, G Walz, IA Drummond, T Benzing, F Hildebrandt. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat. Genet. 34:413-420 (2003). [PubMed]
N Ottschytsch, A Raes, D Van Hoorick, DJ Snyders. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. Proc. Natl. Acad. Sci. USA 99:7986-7991 (2002). [PubMed]
XM Ouyang, XJ Xia, E Verpy, LL Du, A Pandya, C Petit, T Balkany, WE Nance, XZ Liu. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum. Genet. 111:26-30 (2002). [PubMed]
RK Özgül, AM Siemiatkowska, D Yücel, CA Myers, RWJ Collin, MN Zonneveld, A Beryozkin, E Banin, CB Hoyng, LI van den Born, European Retinal Disease Consortium, R Bose, W Shen, D Sharon, FPM Cremers, BJ Klevering, AI den Hollander, JC Corbo. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am. J. Hum. Genet. 89:253-264 (2011). [PubMed]
[ Top of Page | Home Page ]
B Pal, MD Mohamed, TJ Keen, GA Williams, JA Bradbury, E Sheridan, CF Inglehearn. A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. J. Med. Genet. 41:772-777 (2004). [PubMed]
M Papaioannou, CF Chakarova, DQ Prescott, N Waseem, T Theis, I Lopez, B Gill, RK Koenekoop, SS Bhattacharya. A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Hum. Mutat. 118:501-503 (2005). [PubMed]
MA Parisi, CL Bennett, ML Eckert, WB Dobyns, JG Gleeson, DWW Shaw, R McDonald, A Eddy, PF Chance, IA Glass. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75:82-91 (2004). [PubMed]
MA Parisi, D Doherty, ML Eckert, DWW Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, OS Indridason, WB Dobyns, CL Bennett, PF Chance, IA Glass. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J. Med. Genet. 43:334-339 (2006). [PubMed]
RO Parker, J Fan, JM Nickerson, GI Liou, RK Crouch. Normal cone function requires the interphotoreceptor retinoid binding protein. J. Neurosci. 29:4616-4621 (2009). [PubMed]
DA Parry, AJ Mighell, W El-Sayed, RC Shore, IK Jalili, H Dollfus, A Bloch-Zupan, R Carlos, IM Carr, LM Downey, KM Blain, DC Mansfield, M Shahrabi, M Heidari, P Aref, M Abbasi, M Michaelides, AT Moore, J Kirkham, CF Inglehearn. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am. J. Hum. Genet. 84:266-273 (2009). [PubMed]
DA Parry, C Toomes, L Bida, M Danciger, KV Towns, M McKibbin, SG Jacobson, CV Logan, M Ali, J Bond, R Chance, S Swendeman, LL Daniele, K Springell, M Adams, CA Johnson, AP Booth, H Jafri, Y Rashid, E Banin, TM Strom, et al., ..., CF Inglehearn. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am. J. Hum. Genet. 84:683-691 (2009a). [PubMed]
AM Payne, SM Downes, DAR Bessant, C Plant, T Moore, AC Bird, SS Bhattacharya. Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies. J. Med. Genet. 36:691-693 (1999). [PubMed]
AM Payne, SM Downes, DAR Bessant, R Taylor, GE Holder, MJ Warren, AC Bird, SS Bhattacharya. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum. Mol. Genet. 7:273-277 (1998). [PubMed]
AM Payne, AG Morris, SM Downes, S Johnson, AC Bird, AT Moore, SS Bhattacharya, DM Hunt. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J. Med. Genet. 38:611-614 (2001). [PubMed]
M Payne, Z Yang, BJ Katz, JE Warner, CJ Weight, Y Zhao, ED Pearson, RL Treft, T Hillman, RJ Kennedy, FM Meire, K Zhang. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am. J. Ophthalmol. 138:749-755 (2004). [PubMed]
NS Peachey, TA Ray, R Florijn, LB Rowe, T Sjoerdsma, S Contreras-Alcantara, K Baba, G Tosini, N Pozdeyev, PM Iuvone, P Bojang, Jr., JN Pearring, HJ Simonsz, M van Genderen, DG Birch, EI Traboulsi, A Dorfman, I Lopez, H Ren, et al., ..., RG Gregg. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am. J. Hum. Genet. 90:331-339 (2012). [PubMed]
SE Pearce-Kelling, TS Aleman, A Nickle, AM Laties, GD Aguirre, SG Jacobson, GM Acland. Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Mol. Vis. 7:42-47 (2001). [PubMed]
V Pelletier, M Jambou, N Delphin, E Zinovieva, M Stum, N Gigarel, H Dollfus, C Hamel, A Toutain, J-L Dufier, O Roche, A Munnich, J-P Bonnefont, J Kaplan, J-M Rozet. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum. Mutat. 28:81-91 (2006). [PubMed]
I Peluso, I Conte, F Testa, G Dharmalingam, M Pizzo, RWJ Collin, N Meola, S Barbato, M Mutarelli, C Ziviello, AM Barbarulo, V Nigro, MAB Melone, European Retinal Disease Consortium, F Simonelli, F Simonelli, S Banfi. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J. Rare Dis. 8:16 (2013). [PubMed]
L Pentao, RA Lewis, DH Ledbetter, PI Patel, JR Lupski. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am. J. Hum. Genet. 50:690-699 (1992). [PubMed]
I Perrault, J Halbritter, JD Porath, X Gérard, DA Braun, HY Gee, HM Fathy, S Saunier, V Cormier-Daire, S Thomas, T Attié-Bitach, N Boddaert, M Taschner, M Schueler, E Lorentzen, RP Lifton, JA Lawson, M Garfa-Traore, et al., ..., F Hildebrandt. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J. Med. Genet. 52:657-665 (2015). [PubMed]
I Perrault, S Hanein, S Gerber, F Barbet, D Ducroq, H Dollfus, C Hamel, J-L Dufier, A Munnich, J Kaplan, J-M Rozet. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am. J. Hum. Genet. 75:639-646 (2004). [PubMed]
I Perrault, S Hanein, X Zanlonghi, V Serre, M Nicouleau, S Defoort-Delhemmes, N Delphin, L Fares-Taie, S Gerber, O Xerri, C Edelson, A Goldenberg, A Duncombe, G Le Meur, C Hamel, E Silva, P Nitschke, P Calvas, A Munnich, et al., ..., J-M Rozet. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat. Genet. 44:975-977 (2012). [PubMed]
I Perrault, JM Rozet, P Calvas, S Gerber, A Camuzat, H Dollfus, S Châtelin, EV Souied, I Ghazi, C Leowski, M Bonnemaison, D Le Paslier, J Frézal, J-L Dufier, S Pittler, A Munnich, J Kaplan. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat. Genet. 14:461-464 (1996). [PubMed]
I Perrault, JM Rozet, S Gerber, RE Kelsell, E Souied, A Cabot, DM Hunt, A Munnich, J Kaplan. A retGC-1 mutation in autosomal dominant cone-rod dystrophy. Am. J. Hum. Genet. 63:651-654 (1998). [PubMed]
I Perrault, S Saunier, S Hanein, E Filhol, AA Bizet, F Collins, MAM Salih, S Gerber, N Delphin, K Bigot, C Orssaud, E Silva, V Baudouin, MM Oud, N Shannon, M Le Merrer, O Roche, C Pietrement, J Goumid, C Baumann, et al., ... , JM Rozet. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am. J. Hum. Genet. 90:864-870 (2012a). [PubMed]
UEA Pesch, B Leo-Kottler, S Mayer, B Jurklies, U Kellner, E Apfelstedt-Sylla, E Zrenner, C Alexander, B Wissinger. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum. Mol. Genet. 10:1359-1368 (2001). [PubMed]
A Peters, J Greenberg. Sorsby's fundus dystrophy: a South African family with a point mutation in the tissue inhibitor of metalloproteinases-3 gene on chromosome 3. Retina 15:480-485 (1995). [PubMed]
SM Petersen-Jones, DD Entz, DR Sargan. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest. Ophthalmol. Vis. Sci. 40:1637-1644 (1999). [PubMed]
K Petrukhin, MJ Koisti, B Bakall, W Li, G Xie, T Marknell, O Sandgren, K Forsman, G Holmgren, S Andreasson, M Vujic, AAB Bergen, V McGarty-Dugan, D Figueroa, CP Austin, ML MetzkerL, CT Caskey, C Wadelius C. Identification of the gene responsible for Best macular dystrophy. Nat. Genet. 19:241-247 (1998). [PubMed]
S Pieke-Dahl, WJ Kimberling, MB Gorin, MD Weston, JM Furman, A Pikus, C Moller. Genetic heterogeneity of Usher syndrome type II. J. Med. Genet. 30:843-848 (1993). [PubMed]
S Pieke-Dahl, CG Möller, PM Kelley, LM Astuto, CWRJ Cremers, MB Gorin, WJ Kimberling. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. J. Med. Genet. 37:256-262 (2000). [PubMed]
EA Pierce, T Quinn, T Meehan, TL McGee, EL Berson, TP Dryja. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat. Genet. 22:248-254 (1999). [PubMed]
N Piri, YQ Gao, M Danciger, E Mendoza, GA Fishman, DB Farber. A substitution of G to C in the cone cGMP-phosphodiesterase γ subunit gene found in a distinctive form of cone dystrophy. Ophthalmology 112:159-166 (2005). [PubMed]
NI Piriev, JM Shih, DB Farber. Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodieseterase beta-subunit gene. Invest. Ophthalmol. Vis. Sci. 39:463-470 (1998). [PubMed]
SJ Pittler, W Baehr. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc. Natl. Acad. Sci. USA 88:8322-8326 (1991). [PubMed]
SJ Pittler, W Baehr, JJ Wasmuth, DG McConnell, MS Champagne, P vanTuinen, D Ledbetter, RL Davis. Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. Genomics 6:272-283 (1990). [PubMed]
SJ Pittler, CE Keeler, RL Sidman, W Baehr. PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect. Proc. Natl. Acad. Sci. USA 90:9616-9619 (1993). [PubMed]
B Polok, P Escher, A Ambresin, E Chouery, S Bolay, I Meunier, F Nan, C Hamel, FL Munier, B Thilo, A Mégarbané, DF Schorderet. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am. J. Hum. Genet. 84:259-265 (2009). [PubMed]
MH Polymeropoulos, RG Swift, M Swift. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat. Genet. 8:95-97 (1994). [PubMed]
E Pomares, M Riera, J Castro-Navarro, A Andres-Gutierrez, R Gonzalez-Duarte, G Marfany. An intronic single point mutation in RP2 causes semi-dominant X-linked retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 50:5107-5114 (2009). [PubMed]
H Portsteffen, A Beyer, E Becker, C Epplen, A Pawlak, WH Kunau, G Dodt. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nat. Genet. 17:449-452 (1997). [PubMed]
JA Poulter, M Ali, DF Gilmour, A Rice, H Kondo, K Hayashi, DA Mackey, LS Kearns, JB Ruddle, JE Craig, EA Pierce, LM Downey, MD Mohamed, AF Markham, CF Inglehearn, C Toomes. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am. J. Hum. Genet. 86:248-253 (2010). [PubMed]
JA Poulter, AE Davidson, M Ali, DF Gilmour, DA Parry, HA Mintz-Hittner, IM Carr, HM Bottomley, VW Long, LM Downey, PI Sergouniotis, GA Wright, RE Maclaren, AT Moore, AR Webster, CF Inglehearn, C Toomes. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest. Ophthalmol. Vis. Sci. 53:2873-2879 (2012). [PubMed]
SM Price, N Periam, A Humphries, G Woodruff, RC Trembath. Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthalmic. Genet. 17:53-57 (1996). [PubMed]
P Puddu, P Barboni, V Mantovani, P Montagna, A Cerullo, M Bragliana, C Molinotti, R Caramazza. Retinitis pigmentosa, ataxia and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br. J. Ophthalmol. 77:84-88 (1993). [PubMed]
EG Puffenberger, RN Jinks, C Sougnez, K Cibulskis, RA Willert, NP Achilly, RP Cassidy, CJ Fiorentini, KF Heiken, JJ Lawrence, MH Mahoney, CJ Miller, DT NairT, KA Politi, KN Worcester, RA Setton, R DiPiazza, EA Sherman, et al, ..., KA Strauss. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7:e28936 (2012). [PubMed]
PE Purdue, JW Zhang, M Skoneczny, PB Lazarow. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat. Genet. 15:381-384 (1997). [PubMed]
CM Pusch, C Zeitz, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe, J Maurer, FK Jacobi, A Pinckers, S Andreasson, A Hardcastle, B Wissinger, W Berger, A Meindl. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat. Genet. 26:324-327 (2000). [PubMed]
[ Top of Page | Home Page ]
N Qin, S Yagel, M-L Momplaisir, EE Codd, MR D'Andrea. Molecular cloning and characterization of the human voltage-gated calcium channel α2δ-4 subunit. Mol. Pharmacol. 62:485-496 (2002). [PubMed]
[ Top of Page | Home Page ]
MF Rabb, L Mullen, S Yelchits, N Udar, KW Small. A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. Am. J. Ophthalmol. 125:502-508 (1998). [PubMed]
AM Rajadhyaksha, O Elemento, EG Puffenberger, KC Schierberl, JZ Xiang, ML Putorti, J Berciano, C Poulin, B Brais, M Michaelides, RG Weleber, JJ Higgins. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am. J. Hum. Genet. 87:643-654 (2010). [PubMed]
Y Ravia, O Braier-Goldstein, KM Bat-Miriam, S Erlich, G Barkal, B Goldman. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. Hum. Mol. Genet. 8:1295-1297 (1993). [PubMed]
G Rebello, R Ramesar, A Vorster, L Roberts, L Ehrenreich, E Oppon, D Gama, S Bardien, J Greenberg, G Bonapace, A Waheed, GN Shah, WS Sly. Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 101:6617-6622 (2004). [PubMed]
TM Redmond, S Yu, E Lee, D Bok, D Hamasaki, N Chen, P Goletz, J-X Ma, RK Crouch, K Pfeifer. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet. 20:344-351 (1998). [PubMed]
A Rehemtulla, R Warwar, R Kumar, X Ji, DJ Zack, A Swaroop. The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression. Proc. Natl. Acad. Sci. USA 93:191-195 (1996). [PubMed]
HL Rehm, GA Gutiérrez-Espeleta, R Garcia, G Jiménez, U Khetarpal, JM Priest, KB Sims, BJ Keats, CC Morton. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum. Mutat. 9:402-408 (1997). [PubMed]
Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum. Mol. Genet. 7:1185-1192 (1998). [PubMed]
BE Reuber, E Germain-Lee, CS Collins, JC Morrell, R Ameritunga, HW Moser, D Valle, SJ Gould. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat. Genet. 17:445-448 (1997). [PubMed]
S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, SP Nandamuri, R Yousaf, GP Sinha, S Lee, D Terrell, RS Hegde, RA Ali, S Anwar, PB Andrade-Elizondo, A Sirmaci, LV Parise, S Basit, A Wali, M Ayub, M Ansar, et al., ..., ZM Ahmed. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat. Genet. 44:1265-1271 (2012). [PubMed]
SA Riazuddin, M Iqbal, Y Wang, T Masuda, Y Chen, S Bowne, LS Sullivan, NH Waseem, S Bhattacharya, SP Daiger, K Zhang, SN Khan, S Riazuddin, JF Hejtmancik, PA Sieving, DJ Zack, N Katsanis. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am. J. Hum. Genet. 86:805-812 (2010). [PubMed]
SA Riazuddin, A Shahzadi, C Zeitz, ZM Ahmed, R Ayyagari, VRM Chavali, VG Ponferrada, I Audo, C Michiels, M-E Lancelot, IA Nasir, AU Zafar, SN Khan, T Husnain, X Jiao, IM MacDonald, S Riazuddin, PA Sieving, N Katsanis, JF Hejtmancik. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am. J. Hum. Genet. 87:523-531 (2010). [PubMed]
SA Riazuddin, F Zulfiqar, Q Zhang, YV Sergeev, ZA Qazi, T Husnain, R Caruso, S Riazuddin, PA Sieving, JF Hejtmancik. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest. Ophthalmol. Vis. Sci. 46:2264-2670 (2005). [PubMed]
DS Rice, W Huang, HA Jones, G Hansen, G-L Ye, N Xu, EA Wilson, K Troughton, K Vaddi, RC Newton, BP Zambrowicz, AT Sands. Severe retinal degeneration associated with disruption of semaphorin 4A. Invest. Ophthalmol. Vis. Sci. 45:2767-2777 (2004). [PubMed]
A Richards, AMJM van den Maagdenberg, JC Jen, D Kavanagh, P Bertram, D Spitzer, MK Liszewski, M-L Barilla-Labarca, GM Terwindt, Y Kasai, M McLellan, MG Grand, KRJ Vanmolkot, B de Vries, J Wan, MJ Kane, H Mamsa, R Schäfer, et al., à, JP Atkinson. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat. Genet. 39:1068-1070 (2007). [PubMed]
AJ Richards, JRW Yates, R Williams, SJ Payne, FM Pope, JD Scott, MP Snead. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum. Mol. Genet. 5:1339-1343 (1996). [PubMed]
F Ringpfeil, MG Lebwohl, AM Christiano, J Uitto. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc. Natl. Acad. Sci. USA 97:6001-6006 (2000). [PubMed]
P Riordan-Eva, MD Sanders, GG Govan, MG Sweeney, J Da Costa, AE Harding. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337 (1995). [PubMed]
A Rivera, SA Fisher, LG Fritsche, CN Keilhauer, P Lichtner, T Meitinger, BHF Weber. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration contributing independently from complement factor H to disease risk. Hum. Mol. Genet. 14:3227-3236 (2005). [PubMed]
C Rivolta, EA Sweklo, EL Berson, TP Dryja. Missense mutation in the USH2A gene associated with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66:1975-1978 (2000). [PubMed]
J Robitaille, MLE MacDonald, A Kaykas, LC Sheldahl, J Zeisler, M-P Dube, L-H Zhang, RR Singaraja, DL Guernsey, B Zheng, LF Siebert, A Hoskin-Mott, MT Trese, SN Pimstone, BS Shastry, RT Moon, MR Hayden, YP Goldberg, ME Samuels. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat. Genet. 32:326-330 (2002). [PubMed]
TH Roderick, B Chang, NL Hawes, JR Heckenlively. A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Genomics 42:393-396 (1997). [PubMed]
S Rodríguez de Córdoba, J Esparza-Gordillo, E Goicoechea de Jorge, M Lopez-Trascasa, P Sánchez-Corral. The human complement factor H: functional roles, genetic variations and disease associations. Mol. Immunol. 41:355-367 (2004). [PubMed]
R Roepman, D Bauer, T Rosenberg, G van Duijnhoven, E van de Vosse, M Platzer, A Rosenthal, H-H Ropers, FPM Cremers, W Berger. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum. Mol. Genet. 5:827-833 (1996a). [PubMed]
R Roepman, N Bernoud-Hubac, DE Schick, A Maugeri, W Berger, H-H Ropers, FPM Cremers, PA Ferreira. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum. Mol. Genet. 9:2095-2105 (2000). [PubMed]
R Roepman, G van Duijnhoven, T Rosenberg, AJLG Pinckers, LM Bleeker-Wagemakers, AAB Bergen, J Post, A Beck, R Reinhardt, H-H Ropers, FPM Cremers, W Berger. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guaninine-nucleotide-exchange factor RCC1. Hum. Mol. Genet. 5:1035-1041 (1996). [PubMed]
S Roosing, IJC Lamers, E de Vrieze, LI van den Born, S Lambertus, POC1B Study Group, HH Arts, TA Peters, TA Peters, CB Hoyng, H Kremer, L Hetterschijt, SJF Letteboer, E van Wijk, R Roepman, AI den Hollander, FPM Cremers. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 95:131-142 (2014). [PubMed]
S Roosing, K Rohrschneider, A Beryozkin, D Sharon, N Weisschuh, J Staller, S Kohl, L Zelinger, TA Peters, K Neveling, TM Strom, European Retinal Disease Consortium, LI van den Born, CB Hoyng, CC Klaver, R Roepman, et al., ..., AI den Hollander. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93:110-117 (2013). [PubMed]
S Roosing, LI van den Born, R Sangermano, S Banfi, RK Koenekoop, MN Zonneveld-Vrieling, CCW Klaver, JJC van Lith-Verhoeven, FPM Cremers, AI den Hollander, CB Hoyng. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology 122:170-179 (2015). [PubMed]
DJ Rosas, AJ Roman, P Weissbrod, JP Macke, J Nathans. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. Invest. Ophthalmol. Vis. Sci. 35:3134-3144 (1994). [PubMed]
T Rosenberg, B Roos, T Johnsen, N Bech, TE Scheetz, M Larsen, EM Stone, JH Fingert. Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Mol. Vis. 16:2659-2668 (2010). [PubMed]
PJ Rosenfeld, GS Cowley, TL McGee, MA Sandberg, EL Berson, TP Dryja. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat. Genet. 1:209-213 (1992). [PubMed]
C Rouzier, S Bannwarth, A Chaussenot, A Chevrollier, A Verschueren, N Bonello-Palot, K Fragaki, A Cano, J Pouget, J-F Pellissier, V Procaccio, B Chabrol, V Paquis-Flucklinger. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain 135:23-34 (2012). [PubMed]
JM Rozet, S Gerber, E Souied, I Perrault, S Chatelin, I Ghazi, C Leowski, JL Dufier, A Munnich, J Kaplan. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur. J. Hum. Genet. 6:291-295 (1998). [PubMed]
J-M Rozet, I Perrault, N Gigarel, E Souied, I Ghazi, S Gerber, J-L Dufier, A Munnich, J Kaplan. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J. Med. Genet. 39:284-285 (2002). [PubMed]
A Ruiz, S Borrego, I Marcos, G Antiñolo. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am. J. Hum. Genet. 62:1452-1459 (1998). [PubMed]
A Ruiz, MH Kuehn, JL Andorf, E Stone, GS Hageman, D Bok. Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium. Invest. Ophthalmol. Vis. Sci. 42:31-37 (2001). [PubMed]
A Ruiz, A Winston, YH Lim, BA Gilbert, RR Rando, D Bok. Molecular and biochemical characterization of lecithin retinol acyltransferase. J. Biol. Chem. 274:3834-3841 (1999). [PubMed]
[ Top of Page | Home Page ]
K Saar, L Al-Gazali, L Sztriha, F Rueschendorf, M Nur-E-Kamal, A Reis, R Bayoumi. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 65:1666-1671 (1999). [PubMed]
NT Saksens, MP Krebs, FE Schoenmaker-Koller, W Hicks, M Yu, L Shi, L Rowe, GB Collin, JR Charette, SJ Letteboer, K Neveling, TW van Moorsel, S Abu-Ltaif, E De Baere, S Walraedt, S Banfi, F Simonelli, FPM Cremers, et al., ..., AI den Hollander. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat. Genet. 48:144-151 (2016). [PubMed]
H Sakuma, G Iana, A Murakami, T Yajima, RG Weleber, WH Murphey, JDM Gass, Y Hotta, M Hayakawa, K Fujiki, YQ Gao, M Danciger, DB Farber, AV Cideciyan, SG Jacobson. A heterozygous putative null mutation in ROM-1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa. Genomics 27:384-386 (1995). [PubMed]
MA Sandberg, CW DiFranco, B Rosner, EL Berson. The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 37:1693-1698 (1996). [PubMed]
E-M Sankila, L Pakarinen, H Kääriäinen, K Aittomäki, S Karjalainen, P Sistonen, A de la Chapelle. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum. Mol. Genet. 4:93-98 (1995). [PubMed]
FM Santorelli, S Shanske, A Macaya, DC DeVivo, S DiMauro. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann. Neurol. 34:827-834 (1993). [PubMed]
P Sanyanusin, LA McNoe, MJ Sullivan, RG Weaver, MR Eccles. Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum. Mol. Genet. 4:2183-2184 (1995). [PubMed]
P Sanyanusin, LA Schimmenti, LA McNoe, TA Ward, ME Pierpont, MJ Sullivan, WB Dobyns, MR Eccles. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat. Genet. 9:358-364 (1995a). [PubMed]
M Saouda, A Mansour, Y Bou Moglabey, E El Zir, M Mustapha, H Chaib, A Nehme, A Megarbane, J Loiselet, C Petit, R Slim. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Hum. Genet. 103:193-198 (1998). [PubMed]
M Sato, M Nakazawa, T Usui, N Tanimoto, H Abe, H Ohguro. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. Graefes Arch. Clin. Exp. Ophthalmol. 243:235-242 (2004). [PubMed]
CG Sauer, A Gehrig, R Warneke-Wittstock, A Marquardt, CC Ewing, A Gibson, B Lorenz, B Jurklies, BHF Weber. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat. Genet. 17:164-170 (1997). [PubMed]
CG Sauer, HD Schworm, M Ulbig, A Blankenagel, K Rohrschneider, D Pauleikhoff, T Grimm, BH Weber. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). J. Med. Genet. 34:961-966 (1997a). [PubMed]
S Saunier, J Calado, F Benessy, F Silbermann, R Heilig, J Weissenbach, C Antignac. Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am. J. Hum. Genet. 66:778-789 (2000). [PubMed]
S Saunier, J Calado, R Heilig, F Silbermann, F Benessy, G Morin, M Konrad, M Broyer, M-C Gubler, J Weissenbach, C Antignac. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum. Mol. Genet. 6:2317-2323 (1997). [PubMed]
JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, HC Hennies, J Helou, M Attanasio, BV Fausett, B Utsch, H Khanna, Y Liu, I Drummond, I Kawakami, T Kusakabe, M Tsuda, L Ma, H Lee, RG Larson, SJ Allen, et al., ..., F Hildebrandt. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38:674-681 (2006). [PubMed]
E Schaefer, A Zaloszyc, J Lauer, M Durand, F Stutzmann, Y Perdomo-Trujillo, C Redin, V Bennouna Greene, A Toutain, L Perrin, M Gérard, S Caillard, X Bei, RA Lewis, D Christmann, J Letsch, M Kribs, C Mutter, J Muller, C Stoetzel, M Fischbach, V Marion, N K. Mutations in SDCCAG8/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly. Mol. Syndromol. 1:273-281 (2011). [PubMed]
S Scheidecker, C Etard, L Haren, C Stoetzel, S Hull, G Arno, V Plagnol, S Drunat, S Passemard, A Toutain, C Obringer, M Koob, V Geoffroy, V Marion, U Strähle, P Ostergaard, A Verloes, A Merdes, AT Moore, H Dollfus. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am. J. Hum. Genet. 96:666-674 (2015). [PubMed]
S Scheidecker, C Etard, NW Pierce, V Geoffroy, E Schaefer, J Muller, K Chennen, E Flori, V Pelletier, O Poch, V Marion, C Stoetzel, U Strähle, MV Nachury, H Dollfus. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J. Med. Genet. 51:132-136 (2013). [PubMed]
M Schmidts, V Frank, T Eisenberger, S al Turki, AA Bizet, D Antony, S Rix, C Decker, N Bachmann, M Bald, T Vinke, B Toenshoff, N Di Donato, T Neuhann, JL Hartley, ERR Maher, R Bogdanović, A Peco-Antić, et al., ... , C Bergmann. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease. Hum. Mutat. 34:714-724 (2013). [PubMed]
E Schneider, T Märker, A Daser, G Frey-Mahn, V Beyer, R Farcas, B Schneider-Rätzke, N Kohlschmidt, B Grossmann, K Bauss, U Napiontek, A Keilmann, O Bartsch, U Zechner, U Wolfrum, T Haaf. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum. Mol. Genet. 18:655-666 (2009). [PubMed]
S Schnittger, C Hofers, P Heidemann, F Beermann, I Hansmann. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum. Genet. 83:239-244 (1989). [PubMed]
DF Schorderet, O Nichini, G Boisset, B Polok, L Tiab, H Mayeur, B Raji, G de la Houssaye, MM Abitbol, FL Munier. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am. J. Hum. Genet. 82:1178-1184 (2008). [PubMed]
KA Schrader, A Heravi-Moussavi, PJ Waters, J Senz, J Whelan, G Ha, P Eydoux, T Nielsen, B Gallagher, A Oloumi, N Boyd, BA Fernandez, T-L Young, SJM Jones, M Hirst, SP Shah, MA Marra, J Green, DG Huntsman. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J. Pathol. 225:12-18 (2011). [PubMed]
DE Schuback, ZY Chen, IW Craig, XO Breakefield, KB Sims. Mutations in the Norrie disease gene. Hum. Mutat. 5:285-292 (1995). [PubMed]
MJ Schuermann, E Otto, A Becker, K Saar, F Rüschendorf, BC Polak, S Ala-Mello, J Hoefele, A Wiedensohler, M Haller, H Omran, P Nürnberg, F Hildebrandt. Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36. Am. J. Hum. Genet. 70:1240-1246 (2002). [PubMed]
DW Schultz, ML Klein, AJ Humpert, CW Luzier, V Persun, M Schain, A Mahan, C Runckel, M Cassera, V Vittal, TM Doyle, TM Martin, RG Weleber, PJ Francis, TS Acott. Analysis of the ARMD1 locus: Evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum. Mol. Genet. 12:3315-3123 (2003). [PubMed]
U Schwahn, S Lenzner, J Dong, S Feil, B Hinzmann, G van Duijnhoven, R Kirschner, M Hemberger, AAB Bergen, T Rosenberg, AJLG Pinckers, R Fundele, A Rosenthal, FPM Cremers, H-H Ropers, W Berger. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat. Genet. 19:327-332 (1998). [PubMed]
M Schwartz, T Rosenberg. Åland eye disease: linkage data. Genomics 10:327-332 (1991). [PubMed]
MC Seabra, MS Brown, JL Goldstein. Retinal degeneration in choroideremia: deficiency of Rab geranylgeranyl transferase. Science 259:377-381 (1993). [PubMed]
MW Seeliger, HK Biesalski, B Wissinger, H Gollnick, S Gielen, J Frank, S Beck, Zrenner E. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest. Ophthalmol. Vis. Sci. 40:3-11 (1999). [PubMed]
NG Segarra, D Ballhausen, H Crawford, M Perreau, B Campos-Xavier, K van Spaendonck-Zwarts, C Vermeer, M Russo, P-Y Zambelli, B Stevenson, B Royer-Bertrand, C Rivolta, F Candotti, S Unger, FL Munier, A Superti-Furga, L Bonafé. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. Am. J. Med. Genet. A 167:2902-2912 (2016). [PubMed]
MJ Seller, JT Behnam, CM Lewis, RL Johnston, MA Burdon, DJ Spalton. Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. J. Med. Genet. 34:967-972 (1997). [PubMed]
SL Semple-Rowland, NR Lee, JP Van Hooser, K Palczewski, W Baehr. A null mutation in the photoreceptor guanylate cyclase gene causes the 'retinal degeneration' chicken phenotype. Proc. Natl. Acad. Sci. USA 95:1271-1276 (1998). [PubMed]
S Seo, Q Zhang, K Bugge, DK Breslow, CC Searby, MV Nachury, VC Sheffield. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet. 7:e1002358 (2011). [PubMed]
PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, M Lek, DG Macarthur, UCL-Exomes Consortium, SS Bhattacharya, AT Moore, GE Holder, AG Robson, U Wolfrum, AR Webster, V Plagnol. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am. J. Hum. Genet. 94:760-769 (2014). [PubMed]
PI Sergouniotis, AE Davidson, DS Mackay, E Lenassi, Z Li, AG Robson, X Yang, J Hoh Kam, TW Isaacs, GE Holder, G Jeffery, JA Beck, AT Moore, V Plagnol, AR Webster. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am. J. Hum. Genet. 89:782-791 (2011). [PubMed]
PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, AT Moore, AR Webster. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am. J. Hum. Genet. 89:183-190 (2011a). [PubMed]
PI Sergouniotis, Z Li, DS Mackay, GA Wright, A Dev Borman, SR Devery, AT Moore, AR Webster. A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. Invest. Ophthalmol. Vis. Sci. 52:1880-1886 (2011). [PubMed]
BJ Seyedahmadi, C Rivolta, JA Keene, EL Berson, TP Dryja. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp. Eye Res. 79:167-173 (2004). [PubMed]
AB Seymour, A Dash-Modi, JR O'Connell, M Shaffer-Gordon, TS Mah, ST Stefko, R Nagaraja, J Brown, AE Kimura, RE Ferrell, MB Gorin. Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. Am. J. Hum. Genet. 62:122-129 (1998). [PubMed]
R Shaheen, HE Shamseldin, CM Loucks, MZ Seidahmed, S Ansari, M Ibrahim Khalil, N Al-Yacoub, EE Davis, NA Mola, K Szymanska, W Herridge, AE Chudley, BN Chodirker, J Schwartzentruber, J Majewski, N Katsanis, C Poizat, et al., ..., FS Alkuraya. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am. J. Hum. Genet. 94:73-79 (2014). [PubMed]
D Sharon, A Kimchi, C Rivolta. OR2W3 sequence variants are unlikely to cause inherited retinal diseases. Ophthalmic Genet. 18:1-3 (2016). [PubMed]
D Sharon, MA Sandberg, RC Caruso, EL Berson, TP Dryja. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch. Ophthalmol. 121:1316-1323 (2003). [PubMed]
D Sharon, H Yamamoto, TL McGee, V Rabe, RT Szerencsei, RJ Winkfein, CFM Prinsen, CS Barnes, S Andreasson, GA Fishman, PPM Schnetkamp, EL Berson, TP Dryja. Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. Invest. Ophthalmol. Vis. Sci. 43:1971-1979 (2002). [PubMed]
D Sharp, L Blinderman, KA Combs, B Kienzle, B Ricci, K Wager-Smith, CM Gil, CW Turck, M-E Bouma, DJ Rader, LP Aggerbeck, RE Gregg, DA Gordon, JR Wetterau. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 365: 65-69 (1993). [PubMed]
BS Shastry, JF Hejtmancik, DA Plager, MK Hartzer, MT Trese. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics 27:341-344 (1995). [PubMed]
BS Shastry, JF Hejtmancik, MT Trese. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum. Mutat. 9:396-401 (1997a). [PubMed]
BS Shastry, X Liu, JF Hejtmancik, DA Plager, MT Trese. Evidence for genetic heterogeneity in X-linked familial exudative viteroretinopathy. Genomics 44:247-248 (1997b). [PubMed]
BS Shastry, SD Pendergast, MK Hartzer, X Liu, MT Trese. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch. Ophthalmol. 115:651-655 (1997). [PubMed]
VC Sheffield, JS Beck, B Nichols, A Cousineau, AC Lisdral, EM Stone. Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am. J. Hum. Genet. 50:567-575 (1992). [PubMed]
VC Sheffield, R Carmi, A Kwitek-Black, T Rokhlina, D Nishimura, GM Duyk, K Elbedour, SL Sunden, EM Stone. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum. Mol. Genet. 8:1331-1335 (1994). [PubMed]
E Shevach, M Ali, L Mizrahi-Meissonnier, M McKibbin, M El-Asrag, CM Watson, CF Inglehearn, T Ben-Yosef, A Blumenfeld, C Jalas, E Banin, D Sharon. Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol 133:312-318 (2015). [PubMed]
H Shimazaki, Y Takiyama, H Ishiura, C Sakai, Y Matsushima, H Hatakeyama, J Honda, K Sakoe, T Naoi, M Namekawa, Y Fukuda, et al., ... , I Nakano, and Japan Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J. Med. Genet. 49:777-784 (2012). [PubMed]
N Shimozawa, T Tsukamoto, Y Suzuki, T Orii, Y Shirayoshi, T Mori, Y Fujiki. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255:1132-1134 (1992). [PubMed]
CC Shoulders, DJ Brett, JD Bayliss, TME Narcisi, A Jarmuz, TT Grantham, PRD Leoni, S Bhattacharya, RJ Pease, PM Cullen, S Levi, PGH Byfield, P Purkiss, J Scott, J. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum. Mol. Genet. 2:2109-2116 (1993). [PubMed]
DJ Sidjanin, JK Lowe, JL McElwee, BS Milne, TM Phippen, DR Sargan, GD Aguirre, GM Acland, EA Ostrander. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum. Mol. Genet. 11:1823-1833 (2002). [PubMed]
AM Siemiatkowska, LI van den Born, MP van Hagen, M Stoffels, K Neveling, A Henkes, M Kipping-Geertsema, LH Hoefsloot, CB Hoyng, A Simon, AI den Hollander, FPM Cremers, RWJ Collin. Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 120:2697-2705 (2013). [PubMed]
PA Sieving, EL Bingham, MS Roth, MR Young, M Boehnke, C-Y Kuo, D Ginsburg. Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. Am. J. Hum. Genet. 47:616-621 (1990). [PubMed]
A Simon, J Lagercrantz, S Bajalica-Lagercrantz, U Eriksson. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Genomics 36:424-430 (1996). [PubMed]
SM Sisodiya, PJ Thompson, A Need, SE Harris, ME Weale, SE Wilkie, M Michaelides, SL Free, N Walley, C Gumbs, D Gerrelli, P Ruddle, LJ Whalley, JM Starr, DM Hunt, DB Goldstein, IJ Deary, AT Moore. Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. J. Med. Genet. 44:373-380 (2007). [PubMed]
AM Slavotinek, EM Stone, K Mykytyn, JR Heckenlively, JS Green, E Héon, MA Musarella, PS Parfrey, VC Sheffield, LG Biesecker. Mutations in MKKS cause Bardet-Biedl syndrome. Nat. Genet. 26:15-16 (2000). [PubMed]
KW Small, AP DeLuca, SS Whitmore, T Rosenberg, R Silva-Garcia, N Udar, B Puech, CA Garcia, TA Rice, GA Fishman, E Héon, JC Folk, LM Streb, CM Haas, LA Wiley, TE Scheetz, JH Fingert, RF Mullins, BA Tucker, EM Stone. North Carolina Macular Dystrophy is caused by dysregulation of the retinal transcription factor PRDM13. Ophthalmol. 123:9-18 (2015). [PubMed]
KW Small, B Puech, L Mullen, S Yelchits. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. Mol. Vis. 3:1 (1997). [PubMed]
KW Small, M Syrquin, L Mullen, K Gehrs. Mapping of autosomal dominant cone degeneration to chromosome 17p. Am. J. Ophthalmol. 121:13-18 (1996). [PubMed]
KW Small, N Udar, S Yelchits, R Klein, C Garcia, G Gallardo, B Puech, V Puech, D Saperstein, J Lim, J Haller, C Flaxel, R Kelsell, D Hunt, K Evans, F Lennon, M Pericak-Vance. North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. Mol. Vis. 5:38 (1999). [PubMed]
KW Small, JL Weber, A Roses, F Lennon, JM Vance, MA Pericak-Vance. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 13:681-685 (1992). [PubMed]
RJH Smith, EC Lee, WJ Kimberling, SP Daiger, MZ Pelias, BJB Keats, ML Jay, A Bird, W Reardon, M Guest, R Agyagri, JF Hejtmancik. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:995-1002 (1992). [PubMed]
MP Snead, JRW Yates. Clinical and molecular genetics of Stickler syndrome. J. Med. Genet. 36:353-659 (1999). [PubMed]
ZT Soens, Y Li, L Zhao, A Eblimit, R Dharmat, Y Li, Y Chen, M Naqeeb, N Fajardo, I Lopez, Z Sun, RK Koenekoop, R Chen. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet. Med. 18:1044-1051 (2016). [PubMed]
MM Sohocki, SJ Bowne, LS Sullivan, S Blackshaw, CL Cepko, AM Payne, SS Bhattacharya, S Khaliq, S Qasim Mehdi, DG Birch, WR Harrison, FFB Elder, JR Heckenlively, SP Daiger. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat. Genet. 24:79-83 (2000). [PubMed]
MM Sohocki, KA Malone, LS Sullivan, SP Daiger. Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders. Genomics 58:29-33 (1999). [PubMed]
MM Sohocki, LS Sullivan, HA Mintz-Hittner, D Birch, JR Heckenlively, CL Freund, RR McInnes, SP Daiger. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription factor gene. Am. J. Hum. Genet. 63:1307-1315 (1998). [PubMed]
MM Sohocki, LS Sullivan, HA Mintz-Hittner, K Small, RE Ferrell, SP Daiger. Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci. Am. J. Hum. Genet. 61:239-241 (1997). [PubMed]
I Sokal, N Li, I Surgucheva, MJ Warren, AM Payne, SS Bhattacharya, W Baehr, Palczewski K. GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol. Cell 2:129-133 (1998). [PubMed]
M Solaguren-Beascoa, KM Bujakowska, C Méjécase, L Emmenegger, E Orhan, M Neuillé, S Mohand-Saïd, C Condroyer, M-E Lancelot, C Michiels, V Demontant, A Antonio, M Letexier, J-P Saraiva, C Lonjou, W Carpentier, et al., ...,C Zeitx. WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clin. Genet. 99:298-302 (2021). [PubMed]
RS Sparkes, AL Murphree, RW Lingua, MC Sparkes, LL Field, SJ Funderburk, WF Benedict. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 219:971-973 (1983). [PubMed]
E Sprecher, R Bergman, G Richard, R Lurie, S Shalev, D Petronius, A Shalata, Y Anbinder, R Leibu, I Perlman, N Cohen, R Szargel. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat. Genet. 29:134-136 (2001). [PubMed]
JY Stallworth, DR Blair, A Slavotinek, AT Moore, JL Duncan, AG de Alba Campomanes. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic Genet. 44:486-490 (2023). [PubMed]
ST Stefko, K Zhang, MB Gorin, EI Traboulsi. Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. Am. J. Ophthalmol. 130:203-208 (2000). [PubMed]
DW Stockton, RA Lewis, EB Abboud, A Al-Rajhi, M Jabak, KL Anderson, JR Lupski. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum. Genet. 103:328-333 (1998). [PubMed]
C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, N Salem, E Chouery, S Corbani, N Jalk, S Vicaire, P Sarda, C Hamel, D Lacombe, M Holder, S Odent, S Holder, AS Brooks, NH Elcioglu, E Da Silva, et al., ..., H Dollfus. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat. Genet. 38:521-524 (2006). [PubMed]
C Stoetzel, J Muller, V Laurier, EE Davis, NA Zaghloul, S Vicaire, C Jacquelin, F Plewniak, CC Leitch, P Sarda, C Hamel, TJL de Ravel, RA Lewis, E Friederich, C Thibault, J-M Danse, A Verloes, D Bonneau, N Katsanis, O Poch, J-L Mandel, H Dollfus. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am. J. Hum. Genet. 80:1-11 (2007). [PubMed]
H Stöhr, K Roomp., U Felbor, BHF Weber. Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome Res. 5:483-487 (1995). [PubMed]
DL Stone, R Agarwala, AA Schaffer, JL Weber, D Vaske, T Oda, SC Chandrasekharappa, CA Francomano, LG Biesecker. Genetic and physical mapping of the McKusick-Kaufman syndrome. Hum. Mol. Genet. 7:475-481 (1998a). [PubMed]
DL Stone, A Slavotinek, GG Bouffard, S Banerjee-Basu, AD Baxevanis, M Barr, LG Biesecker. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat. Genet. 25:79-82 (2000). [PubMed]
EM Stone, TA Braun, SR Russell, MH Kuehn, AJ Lotery, PA Moore, CG Eastman, TL Casavant, VC Sheffield. Missense variations in the fibulin 5 gene and age-related macular degeneration. N. Engl. J. Med. 351:346-353 (2004). [PubMed]
EM Stone, AE Kimura, JC Folk, SR Bennett, BE Nichols, LM Streb, VC Sheffield. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum. Mol. Genet. 1:685-689 (1992). [PubMed]
EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, K Vandenburgh, P Cousin, D Nishimura, RE Swiderski, G Silvestri, DA Mackey, GS Hageman, AC Bird, VC Sheffield, DF Schorderet. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat. Genet. 22:199-202 (1999). [PubMed]
EM Stone, X Luo, E Héon, BL Lam, RG Weleber, JA Halder, LM Affatigato, JB Goldberg, A Sumaroka, SB Schwartz, AV Cideciyan, SG Jacobson. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Invest. Ophthalmol. Vis Sci. 52:9665-9673 (2011). [PubMed]
EM Stone, BE Nichols, AE Kimura, TA Weingeist, AV Drack, VC Sheffield. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch. Ophthalmol. 112:765-772 (1994). [PubMed]
EM Stone, BE Nichols, LM Streb, AE Kimura, VC Sheffield. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat. Genet. 1:246-250 (1992a). [PubMed]
EM Stone, AR Webster, K Vandenburgh, LM Streb, RR Hockey, AJ Lotery, VC Sheffield. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat. Genet. 20:328-329 (1998). [PubMed]
P Strasberg, HA Liede, T Stein, I Warren, J Sutherland, PN Ray. A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif. Hum. Mol. Genet. 11:2179-2180 (1995). [PubMed]
SP Strom, MJ Clark, A Martinez, S Garcia, AA Abelazeem, A Matynia, S Parikh, LS Sullivan, SJ Bowne, SP Daiger, MB Gorin. De novo occurrence of a variant in ARL3 and apparent autosomal dominant transmission of retinitis pigmentosa. PLoS ONE 11:e0150944 (2016). [PubMed]
TM Strom, K Hörtnagel, S Hofmann, F Gekeler, C Scharfe, W Rabl, KD Gerbitz, T Meitinger. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene ('wolframin') coding for a predicted transmembrane protein. Hum. Mol. Genet. 7:2021-2028 (1998). [PubMed]
TM Strom, G Nyakatura, E Apfelstedt-Sylla, H Hellebrand, B Lorenz, BH Weber, K Wutz, N Gutwillinger, K Rüther, B Drescher, C Sauer, E Zrenner, T Meitinger, A Rosenthal, A Meindl. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet. 19:260-263 (1998). [PubMed]
B Struk, KH Neldner, VS Rao, P St Jean, K Lindpaintner. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum. Mol. Genet. 6:1823-1828 (1997). [PubMed]
ML Suber, SJ Pittler, N Qin, GC Wright, V Holcombe, RH Lee, CM Craft, RN Lolley, W Baehr, RL Hurwitz. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc. Natl. Acad. Sci. USA 90:3968-3972 (1993). [PubMed]
LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, RA Lewis, CA Garcia, RS Ruiz, SH Blanton, H Northrup, AI Gire, R Seaman, H Duzkale, CJ Spellicy, J Zhu, SP Shankar, SP Daiger. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest. Ophthalmol. Vis. Sci. 47:3052-3064 (2006). [PubMed]
LS Sullivan, SJ Bowne, DC Koboldt, EL Cadena, JR Heckenlively, KE Branham, DH Wheaton, KD Jones, RS Ruiz, ME Pennesi, P Yang, D Davis-Boozer, H Northrup, VV Gurevich, R Chen, M Xu, Y Li, DG Birch, SP Daiger. A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States. Invest. Ophthalmol. Vis. Sci. 58:2774-2784 (2017). [PubMed]
LS Sullivan, SJ Bowne, CR Seaman, SH Blanton, RA Lewis, JR Heckenlively, DG Birch, D Hughbanks-Wheaton, SP Daiger. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 47:4579-4588 (2006a). [PubMed]
LS Sullivan, JR Heckenlively, SJ Bowne, J Zuo, WA Hide, A Gal, M Denton, CF Inglehearn, SH Blanton, SP Daiger. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat. Genet. 22:255-259 (1999). [PubMed]
LS Sullivan, DC Koboldt, SJ Bowne, S Lang, SH Blanton, EL Cadena, CE Avery, RA Lewis, K Webb-Jones, DH Wheaton, DG Birch, R Coussa, H Ren, I Lopez, C Chakarova, RK Koenekoop, CA Garcia, RS Fulton, RK Wilson, GM Weinstock, SP Daiger. A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 55:7147-7158 (2014). [PubMed]
H Sun, RS Molday, J Nathans. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J. Biol. Chem. 274:8269-8281 (1999). [PubMed]
H Sun, J Natahns. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat. Genet. 17:15-16 (1997). [PubMed]
H Sun, T Tsunenari, K-W Yau, J Nathans. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc. Natl. Acad. Sci. USA 99:4008-4013 (2002). [PubMed]
OH Sundin, GS Leppert, ED Silva, J-M Yang, S Dharmaraj, IH Maumenee, LC Santos, CF Parsa, EI Traboulsi, KW Broman, C Dibernardo, JS Sunness, J Toy, EM Weinberg. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc. Natl. Acad. Sci. USA 102:9553-9558 (2005). [PubMed]
OH Sundin, J-M Yang, Y Li, D Zhu, JN Hurd, TN Mitchell, ED Silva, IH Maumenee. Genetic basis of total colourblindness among the Pingelapese islanders. Nat. Genet. 25:289-293 (2000). [PubMed]
PK Swain, S Chen, QL Wang, LM Affatigato, CL Coats, KD Brady, GA Fishman, SG Jacobson, A Swaroop, E Stone, PA Sieving, DJ Zack DJ. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:1329-1336 (1997). [PubMed]
A Swaroop, JZ Xu, H Pawar, A Jackson, C Skolnick, N Agarwal. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc. Natl. Acad. Sci. USA 89:266-270 (1992). [PubMed]
A Swaroop, Q-L Wang, W Wu, J Cook, C Coats, S Xu, S Chen, DJ Zack, PA Sieving. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum. Mol. Genet. 8:299-305 (1999). [PubMed]
M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, A Rebelo, D Hannequin, TM Strom, H Prokisch, C Kernstock, A Durr, L Schöls, MM Lima-Martínez, A Farooq, R Schüle, G Stevanin, W Marques Jr, S Züchner. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137:69-77 (2014). [PubMed]
[ Top of Page | Home Page ]
G Tanackovic, A Ransijn, C Ayuso, S Harper, EL Berson, C Rivolta. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am. J. Hum. Genet. 88:643-649 (2011). [PubMed]
EE Tarttelin, C Plant, J Weissenbach, AC Bird, SS Bhattacharya, CF Inglehearn. A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. J. Med. Genet. 33: 518-520 (1996). [PubMed]
TD Taylor, M Litt, P Kramer, M Pandolfo, L Angelini, N Nardocci, S Davis, M Pineda, H Hattori, PJ Flett, MR Cilio, E Bertini, SJ Hayflick. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat. Genet. 14:479-481 (1996). [PubMed]
PW Teague, MA Aldred, M Jay, M Dempster, C Harrison, AD Carothers, LJ Hardwick, HJ Evans, L Strain, DJH Brock, S Bundey, B Jay, AC Bird, SS Bhattacharya, AF Wright. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am. J. Hum. Genet. 55:105-111 (1994). [PubMed]
AAHJ Thiadens, AI den Hollander, S Roosing, SB Nabuurs, RC Zekveld-Vroon, RW Collin, E De Baere, RK Koenekoop, MJ van Schooneveld, TM Strom, JJC van Lith-Verhoeven, AJ Lotery, N van Moll-Ramirez, BP Leroy, LI van den Born, CB Hoyng, FP Cremers, CCW Klaver. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85:240-247 (2009). [PubMed]
DL Thiselton, RM Hampson, M Nayudu, L Van Maldergem, ML Wolf, BK Saha, SS Bhattacharya, AJ Hardcastle. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome Res. 6:1093-1102 (1996). [PubMed]
DA Thompson, Y Li, CL McHenry, TJ Carlson, X Ding, PA Sieving, E Apfelstedt-Sylla, A Gal. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat. Genet. 128:123-124 (2001). [PubMed]
J Toguchida, TL McGee, JC Paterson, JR Eagle, S Tucker, DW Yandell, TP Dryja. Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 17:535-543 (1993). [PubMed]
P Tonin, S Shanske, AF Miranda, AK Brownell, JP Wyse, S Tsujino, S DiMauro. Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Albert). Neurol. 43:387-391 (1993). [PubMed]
C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, JE Craig, L Jiang, Z Yang, R Trembath, G Woodruff, CY Gregory-Evans, K Gregory-Evans, MJ Parker, GC Black, LM Downey, K Zhang, CF Inglehearn. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am. J. Hum. Genet. 74:721-730 (2004). [PubMed]
C Toomes, LM Downey, HM Bottomley, S Scott, G Woodruff, RC Trembath, CF Inglehearn. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). Mol. Vis. 10: 37-42 (2004a). [PubMed]
C Toomes, NJ Marchbank, DA Mackey, JE Craig, RA Newbury-Ecob, CP Bennett, CJ Vize, SP Desai, GC Black, N Patel, M Teimory, AF Markham, CF Inglehearn, AJ Churchill. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum. Mol. Genet. 10:1369-1378 (2001). [PubMed]
AK Topaloglu, A Lomniczi, D Kretzschmar, GA Dissen, LD Kotan, CA McArdle, AF Koc, BC Hamel, M Guclu, ED Papatya, E Eren, E Mengen, F Gurbuz, M Cook, JM Castellano, MB Kekil, NO Mungan, B Yuksel, SR Ojeda. Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J. Clin. Endocrinol. Metab. 99:E2067-2075 (2014). [PubMed]
A Torroni, M Petrozzi, L D'Urbano, D Sellitto, M Zeviani, F Carrara, C Carducci, V Leuzzi, V Carelli, P Barboni, A De Negri, R Scozzari. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60:1107-1121 (1997). [PubMed]
Y Totoki, A Yoshida, F Hosoda, H Nakamura, N Hama, K Ogura, A Yoshida, T Fujiwara, Y Arai, J Toguchida, H Tsuda, S Miyano, A Kawai, T Shibata. Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma. Genome Res. 24:1411-1420 (2014). [PubMed]
L Tranebjaerg, C Schwartz, H Eriksen, S Andreasson, V Ponjavic, A Dahl, RE Stevenson, M May, F Arena, D Barker, HH Elverland, H Lubs. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med. Genet. 32:257-263 (1995). [PubMed]
GH Travis, L Christerson, P Danielson, I Klisak, R Sparkes, L Hahn, T Dryja, J Sutcliffe. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics 10:733-739 (1991). [PubMed]
GH Travis, JG Sutcliffe, D Bok. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 6:61-790 (1991a). [PubMed]
BE Tubb, S Bardien-Kruger, CD Kashork, LG Shaffer, LS Ramagli, J Xu, MJ Siciliano, J Bryan. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. Genomics 65:146-156 (2000). [PubMed]
A Tucci, Y-T Liu, E Preza, RDS Pitceathly, A Chalasani, V Plagnol, JM Land, D Trabzuni, M Ryten, on behalf of UKBEC, Z Jaunmuktane, MM Reilly, S Brandner, I Hargreaves, J Hardy, AB Singleton, AY Abramov, H Houlden. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J. Neurol. Neurosurg. Psychiatry 85:486-492 (2013). [PubMed]
BA Tucker, TE Scheetz, RF Mullins, AP Deluca, JM Hoffmann, RM Johnston, SG Jacobson, VC Sheffield, EM Stone. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc. Natl. Acad. Sci. U.S.A. 108:E569-E576 (2011). [PubMed]
H Tummala, M Ali, P Getty, PM Hocking, DW Burt, CF Inglehearn, DH Lester. Mutation in the guanine nucleotide-binding protein β-3 causes retinal degeneration and embryonic mortality in chickens. Invest. Ophthalmol. Vis. Sci. 47:4714-4718 (2006). [PubMed]
J Tuo, B Ning, CM Bojanowski, Z-N Lin, RJ Ross, GF Reed, D Shen, X Jiao, M Zhou, EY Chew, FF Kadlubar, C-C Chan. Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. Proc. Natl. Acad. Sci. USA 103:9256-9261 (2006). [PubMed]
M Tuson, G Marfany, R Gonzàlez-Duarte. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am. J. Hum. Genet. 74:128-138 (2004). [PubMed]
K Tuz, R Bachmann-Gagescu, DR O'Day, K Hua, CR Isabella, IG Phelps, AE Stolarski, BJ O'Roak, JC Dempsey, C Lourenco, A Alswaid, CG Bönnemann, L Medne, S Nampoothiri, Z Stark, RJ Leventer, M Topçu, A Cansu, et al., ..., RJ Ferland. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am. J. Hum. Genet. 94:62-72 (2014). [PubMed]
[ Top of Page | Home Page ]
N Udar, S Yelchits, M Chalukya, V Yellore, S Nusinowitz, R Silva-Garcia, T Vrabec, I Hussles Maumenee, L Donoso, KW Small. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Hum. Mutat. 21:170-171 (2003). [PubMed]
[ Top of Page | Home Page ]
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, M Iannicelli, L Travaglini, S Romani, B Illi, M Adams, K Szymanska, A Mazzotta, JE Lee, JC Tolentino, D Swistun, CD Salpietro, C Fede, S Gabriel, et al., ..., JG Gileeson. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat. Genet. 42:619-625 (2010). [PubMed]
EM Valente, SE Marsh, M Castori, T Dixon-Salazar, E Bertini, L Al-Gazali, J Messer, C Barbot, CG Woods, E Boltshauser, AA Al-Tawari, CD Salpietro, H Kayserili, L Sztriha, M Gribaa, M Koenig, B Dallapiccola, JG Gleeson. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann. Neurol. 57:513-519 (2005). [PubMed]
EM Valente, DC Salpietro, F Brancati, E Bertini, T Galluccio, G Tortorella, S Briuglia, B Dallapiccola. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am. J. Hum. Genet. 73:663-670 (2003). [PubMed]
EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, M Castori, MA Lancaster, E Boltshauser, L Boccone, L Al-Gazali, E Fazzi, S Signorini, CM Louie, E Bellacchio E; Int Joubert Synd. Related Disorders Study Group, et al., ..., JG Gleeson. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38:623-625 (2006). [PubMed]
D Valverde, M Baiget, R Seminago, E del Rio, B García-Sandoval, T del Rio, M Bayés, S Balcells, A Martínez, D Grinberg, C Ayuso. Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum. Mutat. 4:393-394 (1996). [PubMed]
D Valverde, R Seminagoo, E del Rio, C Ayuso, B García-Sandoval, T del Rio, M Bayés, S Balcells, R Gonzalez-Duarte, M Baiget. An homozygous G to A transition in exon 13 of the beta subunit of rod phosphodiesterase in two RP patients of a consanguineous family. Am. J. Hum. Genet. 57:A230 (1995). [PubMed]
D Valverde, F Vázquez-Gundín, E del Rio, M Calaf, JL Fernández, M Baiget. Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Ophthalmic Genet. 19:197-202 (1998). [PubMed]
H van Bokhoven, M Schwartz, S Andréasson, JAJM van den Hurk, L Bogerd, M Jay, K Rüther, B Jay, IH Pawlowizki, E-M Sankila, A Wright, H-H Ropers, T Rosenberg, FPM Cremers. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Hum. Mol. Genet. 3:1047-1051 (1994). [PubMed]
H van Bokhoven, JAJM van den Hurk, L Bogerd, C Philippe, S Gilgenkrantz, P de Jong, H-H Ropers, FPM Cremers. Cloning and characterization of the human choroideremia gene. Hum. Mol. Genet. 3:1041-1046 (1994a). [PubMed]
G Van Camp, RL Snoeckx, N Hilgert, J van den Ende, H Fukuoka, M Wagatsuma, H Suzuki, RME Smets, F Vanhoenacker, F Declau, P Van de Heyning, S Usami. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am. J. Hum. Genet. 79:449-457 (2006). [PubMed]
DM van den Brink, P Brites, J Haasjes, AS Wierzbicki, J Mitchell, M Lambert-Hamill, J de Belleroche, GA Jansen, HR Waterham, RJ Wanders. Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Hum. Genet. 72:471-477 (2003). [PubMed]
JAJM van den Hurk, M Schwartz, van Bokhoven, van de Pol, L Bogerd, AJJLG Pinckers, EM Bleeker-Wagemakers, LH Pawlowitzki, K Rüther, H-H Ropers, FPM Cremers. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum. Mutat. 9:110-117 (1997). [PubMed]
JAJM van den Hurk, TJR van de Pol, CM Molloy, F Brunsmann, K Rüther, et al., ..., FPM Cremers. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am. J. Hum. Genet. 50:1195-1202 (1992). [PubMed]
JM van den Ouweland, HH Lemkes, W Ruitenbeek, LA Sandkuijl, MF de Vijlder, PA Struyvenberg, JJ van de Kamp, JA Maassen. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1:368-371 (1992). [PubMed]
J van der Spuy, JP Chapple, BJ Clark, PJ Luthert, CS Sethi, ME Cheetham. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Hum. Mol. Genet. 11:823-831 (2002). [PubMed]
MM van Genderen, MMC Bijveld, YB Claassen, RJ Florijn, JN Pearring, FM Meire, MA McCall, FCC Riemslag, RG Gregg, AAB Bergen, M Kamermans. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am. J. Hum. Genet. 85:730-736 (2009). [PubMed]
JP Van Hooser, TS Aleman, YG He, AV Cideciyan, V Kuksa, SJ Pittler, EM Stone, SG Jacobson, K Palczewski. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc. Natl. Acad. Sci. USA 97:8623-8628 (2000). [PubMed]
RAC van Huet, A Estrada-Cuzcano, E Banin, Y Rotenstreich, S Hipp, S Kohl, CB Hoyng, AI den Hollander, RWJ Collin, BJ Klevering. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the c8orf37 gene. Invest. Ophthalmol. Vis. Sci. 54:4683-4690 (2013). [PubMed]
JJC van Lith-Verhoeven, CB Hoyng, B van den Helm, AF Deutman, HMA Brink, MH Kemperman, WHM de Jong, H Kremer, FPM Cremers. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. Invest. Ophthalmol. Vis. Sci. 45: 30-35 (2004). [PubMed]
K Van Schil, F Meire, M Karlstetter, M Bauwens, H Verdin, F Coppieters, E Scheiffert, C Van Nechel, T Langmann, N Deconinck, E De Baere. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet. Med. 17:291-299 (2015). [PubMed]
S van Soest, J Swart, N Tijmes, LA Sandkuijl, J Rommers, AAB Bergen. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res. 7:830-834 (1997). [PubMed]
S van Soest, LI van den Born, A Gal, GJ Farrar, LM Bleeker-Wagemakers, A Westerveld, P Humphries, LA Sandkuijl, AAB Bergen. Assignment of a gene for autosomal dominant recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 20:499-504 (1994). [PubMed]
E van Wijk, RJE Pennings, H te Brinke, A Claassen, HG Yntema, LH Hoefsloot, FPM Cremers, CWRJ Cremers, H Kremer. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am. J. Hum. Genet. 74:738-744 (2004). [PubMed]
G Venturini, AM Rose, AZ Shah, SS Bhattacharya, C Rivolta. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet. 8:e1003040 (2012). [PubMed]
E Verpy, M Leibovici, I Zwaenepoel, X-Z Liu, A Gal, N Salem, A Mansour, S Blanchard, I Kobayashi, BJB Keats, R Slim, C Petit. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat. Genet. 26:51-55 (2000). [PubMed]
R Vervoort, A Lennon, AC Bird, B Tulloch, R Axton, MG Miano, A Meindl, T Meitinger, A Ciccodicola, AF Wright. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat. Genet. 25:462-466 (2000). [PubMed]
J Vesa, E Hellsten, LA Verkruyse, LA Camp, J Rapola, P Santavuori, SL Hofmann, L Peltonen. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587 (1995). [PubMed]
A Veske, SEG Nilsson, K Narfström, A Gal. Retinal dystrophy of Swedish Briard/Briard-Beagle dogs is due to a 4 bp deletion in RPE65. Am. J. Hum. Genet. 57:57-61 (1999). [PubMed]
A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, A Mollica, J Kang, O Kehelwathugoda, T Paton, JT Maynes, G Wheway, G Arno, KN Khan, KN Khan, M McKibbin, C Toomes, M Ali, M Di Scipio, S Li, J Ellingford, et. al, ..., E Héon. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genet. Med. 22:2041-2051 (2020). [PubMed]
MI Vikkula, ECM Mariman, VCH Lui, NI Zhidkova, GE Tiller, MB Goldring, SEC van Beersum, MC de Waal Malefijt, FHJ van den Hoogen, H-H Ropers, R Mayne, KSE Cheah, BR Olsen, ML Warman, HG Brunner. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80:431-437 (1995). [PubMed]
A Vincent, I Audo, E Tavares, JT Maynes, A Tumber, T Wright, S Li, C Michiels, GNB3 Consortium, C Condroyer, H MacDonald, R Verdet, J-A Sahel, CP Hamel, C Zeitz, E Héon. Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness. Am. J. Hum. Genet. 98:1011-1019 (2016). [PubMed]
A Vincent, N Forster, JT Maynes, TA Paton, G Billingsley, NM Roslin, A Ali, J Sutherland, T Wright, CA Westall, AD Paterson, CR Marshall, FORGE Canada Consortium, E Héon. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J. Med. Genet. 51:797-805 (2014). [PubMed]
EN Vithana, L Abu-Safieh, MJ Allen, A Carey, M Papaioannou, C Chakarova, M Al-Maghtheh, ND Ebenezer, C Willis, AT Moore, AC Bird, DM Hunt, SS Bhattacharya. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol. Cell 8:375-381 (2001). [PubMed]
EN Vithana, L Abu-Safieh, L Pelosini, E Winchester, D Hornan, AC Bird, DM Hunt, SA Bustin, SS Bhattacharya. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest. Ophthalmol. Vis. Sci. 44: 4204-4209 (2003). [PubMed]
E Vithana, M Al-Maghtheh, SS Bhattacharya, CF Inglehearn. RP11 is the second most common locus for dominant retinitis pigmentosa. J. Med. Genet. 5:174-175 (1998). [PubMed]
D Vollrath, W Feng, JL Duncan, D Yasumura, PM D'Cruz, A Chappelow, MT Matthes, MA Kay, MM LaVail. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Natl. Acad. Sci. USA 98:12584-12589 (2001). [PubMed]
M Votruba, AT Moore, SS Bhattacharya. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J. Med. Genet. 34:117-121 (1997). [PubMed]
M Votruba, AT Moore, SS Bhattacharya. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees. Hum. Genet. 102:79-86 (1998). [PubMed]
[ Top of Page | Home Page ]
Y Wada, T Abe, T Itabashi, H Sato, M Kawamura, M Tamai. Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. Arch. Ophthalmol. 121:1613-1620 (2003). [PubMed]
Y Wada, T Abe, T Takeshita, H Sato, K Yanashima, M Tamai. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 42:2395-2400 (2001). [PubMed]
DC Wallace. Mitochondrial diseases in man and mouse. Science 283:1482-1488 (1999). [PubMed]
DC Wallace, G Singh, MT Lott, JA Hodge, TG Schurr, AM Lezza, LJ Elsas 2d, EK Nikoskelainen. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430 (1988). [PubMed]
F Wang, H Li, M Xu, H Li, L Zhao, L Yang, JE Zaneveld, K Wang, Y Li, R Sui, R Chen. A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 56:150-155 (2015). [PubMed]
F Wang, Y Wang, B Zhang, L Zhao, V Lyubasyuk, K Wang, M Xu, Y Li, F Wu, C Wen, PS Bernstein, D Lin, S Zhu, H Wang, K Zhang, R Chen. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest. Ophthalmol .Vis Sci. 55:7159-7164 (2014). [PubMed]
H Wang, AI den Hollander, Y Moayedi, A Abulimiti, Y Li, RWJ Collin, CB Hoyng, I Lopez, EB Abboud, AA Al-Rajhi, M Bray, RA Lewis, JR Lupski, G Mardon, RK Koenekoop, R Chen. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am. J. Hum. Genet. 84:380-387 (2009). [PubMed]
Q-L Wang, S Chen, N Esumi, PK Swain, HS Haines, G Peng, BM Melia, I McIntosh, JR Heckenlively, SG Jacobson, EM Stone, A Swaroop, DJ Zack. QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum. Mol. Genet. 13:1025-1040 (2004). [PubMed]
Y Wang, L Guo, S-P Cai, M Dai, Q Yang, W Yu, N Yan, X Zhou, J Fu, X Guo, P Han, J Wang, X Liu. Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. PLoS ONE 7:e33673 (2012). [PubMed]
Y Wang, M Okamoto, F Schmitz, K Hofmann, TC Südhof. Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion. Nature 388:593-598 (1997). [PubMed]
Y Wang, S Sugita, TC Südhof. The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins. J. Biol. Chem. 275:20033-20044 (2000). [PubMed]
X Wang, H Wang, V Sun, H-F Tuan, V Keser, K Wang, H Ren, I Lopez, JE Zaneveld, S Siddiqui, S Bowles, A Khan, J Salvo, SG Jacobson, A Iannaccone, F Wang, D Birch, JR Heckenlively, GA Fishman, EI Traboulsi, Y Li, D Wheaton, RK Koenekoop, R Chen. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J. Med. Genet. 50:674-688 (2013). [PubMed]
M Warburg, O Sjö, L Tranebjaerg, HC Fledelius. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q21.1. Am. J. Med. Genet. 39:288-293 (1991). [PubMed]
S Wayne, VM Der Kaloustian, M Schloss, R Polomeno, DA Scott, JF Hejtmancik, VC Sheffield, RJH Smith. Localization of the Usher syndrome type 1D gene (USH1D) to chromosome 10. Hum. Mol. Genet. 10:1689-1692 (1996). [PubMed]
TR Webb, DA Parfitt, JC Gardner, A Martinez, D Bevilacqua, AE Davidson, I Zito, DL Thiselton, JHC Ressa, M Apergi, N Schwarz, N Kanuga, M Michaelides, ME Cheetham, MB Gorin, AJ Hardcastle. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum. Mol. Genet. 21:3647-3654 (2012). [PubMed]
B Weber, O Riess, G Hutchinson, C Collins, BY Lin, D Kowbel, S Andrew Schappert K, Hayden MR. Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3. Nuc. Acids Res 19:6263-6268 (1991). [PubMed]
BHF Weber, G Vogt, RC Pruett, H Stöhr, U Felbor. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat. Genet. 8:352-355 (1994). [PubMed]
BHF Weber, G Vogt, H Stöhr, S Sander, D Walker, C Jones. High-resolution meiotic and physical mapping of the Best vitelliform macular dystrophy (VMD2) locus pericentromeric to chromosome 11. Am. J. Hum. Genet. 55:1182-1187 (1994a). [PubMed]
BHF Weber, G Vogt, W Wolz, EJ Ives, CC Ewing. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat. Genet. 7:158-161 (1994b). [PubMed]
BH Weber, D Walker, B Müller, L Mar. Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. Genomics 20:267-274 (1994c). [PubMed]
JL Weber, PE May. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44:388-396 (1989). [PubMed]
DE Weeks, YP Conley, H-J Tsai, TS Mah, PJ Rosenfeld, TO Paul, AW Eller, LS Morse, JP Dailey, RE Ferrell, MB Gorin. Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am. J. Ophthalmol. 132:682-692 (2001). [PubMed]
M Weigell-Weber, G-M Sarra, D Kotzot, L Sandkuijl, E Messmer, M Hergersberg. Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Arch. Ophthalmol. 121:1184-1188 (2003). [PubMed]
D Weil, S Blanchard, J Kaplan, P Guilford, F Gibson, J Walsh, P Mburu, A Varela, J Levillers, MD Weston, PM Kelly, WJ Kimberling, M Wagenaar, F Levi-Acobas, D Larget-Piet, A Munnich, KP Steel, SDM Brown, C Petit. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61 (1995). [PubMed]
D Weil, A El-Amraoui, S Masmoudi, M Mustapha, Y Kikkawa, S Lainé, S Delmaghani, A Adato, S Nadifi, ZB Zina, C Hamel, A Gal, H Ayadi, H Yonekawa, C Petit. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum. Mol. Genet. 12:463-471 (2003). [PubMed]
D Weil, P Küssel, S Blanchard, G Lévy, F Levi-Acobas, M Drira, H Ayadi, C Petit. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat. Genet. 16:191-193 (1997). [PubMed]
M Weisz Hubshman, S Broekman, E van Wijk, F Cremers, A Abu-Diab, S Khateb, S Tzur, I Lagovsky, P Smirin-Yosef, D Sharon, L Haer-Wigman, E Banin, L Basel-Vanagaite, E de Vrieze. Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Hum. Mol. Genet. 27:614-624 (2018). [PubMed]
CJ Weitz, Y Miyake, K Shinzato, E Montag, E Zrenner, LN Went, J Nathans. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am. J. Hum. Genet. 50:498-507 (1992). [PubMed]
CJ Weitz, LN Went, J Nathans. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. Am. J. Hum. Genet. 51:444-446 (1992a). [PubMed]
J Weng, NL Mata, SM Azarian, RT Tzekov, DG Birch, GH Travis. Insights into the function of rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98:13-23 (1999). [PubMed]
G Weskamp, H Cai, TA Brodie, S Higashyama, K Manova, T Ludwig, CP Blobel. Mice lacking the metalloprotease-disintegrin MDC9 (ADAM9) have no evident major abnormalities during development or adult life. Mol. Cell. Biol. 22:1537-1544 (2002). [PubMed]
MD Weston, JD Eudy, S Fujita, S-F Yao, S Usami, C Cremers, J Greenberg, R Ramesar, A Martini, C Moller, RJ Smith, J Sumegi, WJ Kimberling. Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa. Am. J. Hum. Genet. 66:119-1210 (2000). [PubMed]
MD Weston, PM Kelly, JD Overbeck, M Wagenaar, DJ Orten, T Hasson, Z-Y Chen, D Corey, M Mooseker, J Sumegi, C Cremers, C Möller, SG Jacobson, MB Gorin, WJ Kimberling. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am. J. Hum. Genet. 59:1074-1083 (1996). [PubMed]
MD Weston, MW Luijendijk, KD Humphrey, C Moller, WJ Kimberling. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am. J. Hum. Genet. 74:357-366 (2004). [PubMed]
DRA White, A Ganesh, D Nishimura, E Rattenberry, S Ahmed, UM Smith, S Pasha, S Raeburn, RC Trembath, A Rajab, F Macdonald, E Banin, EM Stone, CA Johnson, VC Sheffield, ER Maher. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur. J. Hum. Genet. 15:173-178 (2007). [PubMed]
SL White, S Shanske, JJ McGill, H Mountain, MT Geraghty, S DiMauro, HH Dahl, DR Thorburn. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. J. Inherit. Metab. Dis. 22:899-914 (1999). [PubMed]
SD Wijesuriya, K Evans, MR Jay, C Davison, BHF Weber, AC Bird, SS Bhattacharya, CY Gregory. Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res. 6:92-101 (1996). [PubMed]
ML Williams, JE Coleman, SE Haire, TS Aleman, AV Cideciyan, I Sokal, K Palczewski, SG Jacobson, SL Semple-Rowland. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS. Med. 3:904-917 (2006). [PubMed]
J Winderickx, E Sanocki, DT Lindsey, DY Teller, AG Motulsky, SS Deeb. Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat. Genet. 1:251-256 (1992). [PubMed]
JD Winick, ML Blundell, BL Galke, AA Salam, SM Leal, M Karayiorgou. Homozygosity mapping of the achromatopsia locus in the Pingelapese. Am. J. Hum. Genet. 64:1679-1685 (1999). [PubMed]
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, M Broghammer, B Jurklies, T Rosenberg, SG Jacobson, EC Sener, S Tatlipinar, CB Hoyng, C Castellan, P Bitoun, S Andreasson, G Rudolph, U Kellner, B Lorenz, et. al, ..., S Kohl. CNGA3 mutations in hereditary cone photoreceptor disorders. Am. J. Hum. Genet. 69:722-737 (2001). [PubMed]
B Wissinger, H Jägle, S Kohl, M Broghammer, B Baumann, DB Hanna, C Hedels, E Apfelstedt-Sylla, G Randazzo, SG Jacobson, E Zrenner, LT Sharpe. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 51:325-331 (1998). [PubMed]
U Wolfrum, X Liu, A Schmidtt, IP Udovichenko, DS Williams. Myosin IVa as a common component of cilia and microvilli. Cell Motil. Cytoskeleton 40:261-271 (1998). [PubMed]
MO Woods, T-L Young, PS Parfrey, D Hefferton, JS Green, WS Davison. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Genomics 55:2-9 (1999). [PubMed]
ZC Wright, RK Singh, R Alpino, AFX Goldberg, M Sokolov, V Ramamurthy. ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment. Hum. Mol. Genet. 25:2031-2044 (2016). [PubMed]
H Wu, JA Cowing, M Michaelides, SE Wilkie, G Jeffery, SA Jenkins, V Mester, AC Bird, AG Robson, GE Holder, AT Moore, DM Hunt, AR Webster. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Am. J. Hum. Genet. 79:574-579 (2006). [PubMed]
JH Wu, JH Liu, YC Ko, CT Wang, YC Chung, KC Chu, TT Liu, HM Chao, YJ Jiang, SJ Chen, MY Chung. Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. Hum. Mol. Genet. 25:1637-1647 (2016). [PubMed]
K Wutz, C Sauer, E Zrenner, B Lorenz, T Alitalo, M Broghammer, M Hergersberg, A de La Chapelle, BHF Weber, B Wissinger, A Meindl, CM Pusch. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur. J. Hum. Genet. 10:449-456 (2002). [PubMed]
KA Wycisk, B Budde, S Feil, S Skosyrski, F Buzzi, J Neidhardt, E Glaus, P Nürnberg, K Ruether, W Berger. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest. Ophthalmol. Vis. Sci. 47:3523-3530 (2006). [PubMed]
KA Wycisk, C Zeitz, S Feil, M Wittmer, U Forster, J Neidhardt, B Wissinger, E Zrenner, R Wilke, S Kohl, W Berger. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am. J. Hum. Genet. 79:973-977 (2006a). [PubMed]
[ Top of Page | Home Page ]
X Xiao, G Mai, S Li, X Guo, Q Zhang. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem. Biophys. Res. Commun. 409:181-186 (2011). [PubMed]
YA Xie, W Lee, C Cai, T Gambin, K Nõupuu, T Sujirakul, C Ayuso, S Jhangiani, D Muzny, E Boerwinkle, R Gibbs, VC Greenstein, JR Lupski, SH Tsang, R Allikmets. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum. Mol Genet. 21:5774-5780 (2014). [PubMed]
M Xu, A Eblimit, J Wang, J Li, F Wang, L Zhao, X Wang, N Xiao, Y Li, L-JC Wong, RA Lewis, R Chen. ADIPOR1 is mutated in syndromic retinitis pigmentosa. Hum. Mut. 37:246-249 (2016). [PubMed]
M Xu, V Gelowani, A Eblimit, F Wang, MP Young, BL Sawyer, L Zhao, G Jenkins, DJ Creel, K Wang, Z Ge, H Wang, Y Li, ME Hartnett, R Chen. ATF6 is mutated in early onset photoreceptor degeneration with macular involvement. Invest. Ophthalmol. Vis Sci. 56:3889-3895 (2015). [PubMed]
M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, IS Osman, R Dharmat, R Riveiro-Alvarez, L Bapst-Wicht, D Babino, G Arno, V Busetto, L Zhao, H Li, MA Lopez-Martinez, LF Azevedo, L Hubert, N Pontikos, et al., ..., DE Schorderet. Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies. Am. J. Hum. Genet 100:592-604 (2017). [PubMed]
M Xu, T Yamada, Z Sun, A Eblimit, I Lopez, F Wang, H Manya, S Xu, L Zhao, Y Li, A Kimchi, D Sharon, R Sui, T Endo, RK Koenekoop, R Chen. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum. Mol. Genet. 25:1479-1488 (2016). [PubMed]
M Xu, L Yang, F Wang, H Li, X Wang, W Wang, Z Ge, K Wang, L Zhao, H Li, Y Li, R Sui, R Chen. Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum. Genet. 134:1069-1078 (2015a). [PubMed]
S-Y Xu, M Denton, LS Sullivan, SP Daiger, A Gal. Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. Hum. Genet. 98:741-743 (1996). [PubMed]
S-Y Xu, T Rosenberg, A Gal. Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q. Hum. Genet. 102:493-494 (1998). [PubMed]
S-Y Xu, M Schwartz, T Rosenberg, A Gal. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentric region of chromosome 1. Hum. Mol. Genet. 5:1193-1197 (1996a). [PubMed]
[ Top of Page | Home Page ]
GL Yamamoto, WAR Baratela, TF Almeida, M Lazar, CL Afonso, MK Oyamada, L Suzuki, LAN Oliveira, ES Ramos, CA Kim, MR Passos-Bueno, DR Bertola. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am. J. Hum. Genet. 94:113-119 (2014). [PubMed]
H Yamamoto, A Simon, U Eriksson, E Harris, EL Berson, TP Dryja. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat. Genet. 22:188-191 (1999). [PubMed]
S Yamamoto, KC Sippel, EL Berson, TP Dryja. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat. Genet. 15:175-178 (1997). [PubMed]
T Yamashita, J Liu, J Gao, S LeNoue, C Wang, J Kaminoh, SJ Bowne, LS Sullivan, SP Daiger, K Zhang, MEC Fitzgerald, VJ Kefalov, J Zuo. Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J. Neurosci. 29:9748-9760 (2009). [PubMed]
Z Yang, NJ Camp, H Sun, Z Tong, D Gibbs, DJ Cameron, H Chen, Y Zhao, E Pearson, X Li, J Chien, A DeWan, J Harmon, PS Bernstein, V Shridhar, NA Zabriskie, J Hoh, K Howes, K Zhang. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314:992-993 (2006). [PubMed]
Z Yang, Y Chen, C Lillo, J Chien, Z Yu, M Michaelides, M Klein, KA Howes, Y Li, Y Kaminoh, H Chen, C Zhao, Y Chen, YT Al-Sheikh, G Karan, D Corbeil, P Escher, S Kamaya, C Li, S Johnson, JM Frederick, Y Zhao, C Wang, et al., ..., K Zhang. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J. Clin. Invest. 118:2908-2916 (2008a). [PubMed]
Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis, K Psilas, M Grigoriadou, Y Zhao, S Kamaya, G Aperis, MB Petersen, K Zhang. A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family. J. Med. Genet. 43:e57 (2006a). [PubMed]
Z Yang, NS Peachey, DM Moshfeghi, S Thirumalaichary, L Chorich, YY Shugart, K Fan, K Zhang. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum. Mol. Genet. 11:605-611 (2002). [PubMed]
Z Yang, C Stratton, PJ Francis, ME Kleinman, PL Tan, D Gibbs, Z Tong, H Chen, R Constantine, X Yang, Y Chen, J Zeng, L Davey, X Ma, VS Hau, C Wang, J Harmon, J Buehler, E Pearson, S Patel, Y Kaminoh, S Watkins, L Luo, et al., ..., K Zhang. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N. Engl. J. Med. 359:1456-1463 (2008b). [PubMed]
Z Yang, Z Tong, LJ Chorich, E Pearson, X Yang, A Moore, DM Hunt, K Zhang. Clinical characterization and genetic mapping of North Carolina macular dystrophy. Vision Res. 48:470-477 (2008). [PubMed]
TL Yang-Feng, A Swaroop. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. Genomics 14:491-492 (1992). [PubMed]
J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, R Perveen, MA Reddy, SS Bhattacharya, E Traboulsi, D Baralle, J-J De Laey, B Puech, P Kestelyn, AT Moore, FDC Manson, GCM Black. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest. Ophthalmol. Vis. Sci. 45:3683-3689 (2004). [PubMed]
JRW Yates, T Sepp, BK Matharu, JC Khan, DA Thurlby, H Shahid, DG Clayton, C Hayward, J Morgan, AF Wright, AM Armbrecht, B Dhillon, IJ Deary, E Redmond, AC Bird, AT Moore, The Genetic Factors in AMD Study Group. Complement C3 variant and the risk of age-related macular degeneration. N. Engl. J. Med. 357:553-561 (2007). [PubMed]
Z Yi, J Ouyang, W Sun, S Li, X Xiao, Q Zhang. Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. EBioMedicine 56:102792 (2020). [PubMed]
E Yildiz Bölükbasi, S Mumtaz, M Afzal, U Woehlbier, S Malik, A Tolun. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. J. Med. Genet. 55:189-197 (2018). [PubMed]
T Yokota, T Shiojiri, T Gotoda, H Arai. Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. New Eng. J. Med. 335:1770-1771 (1996). [PubMed]
T-L Young, E Ives, E Lynch, R Person, S Snook, L MacLaren, T Cator, A Griffin, B Fernandez, MK Lee, M-C King. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum. Mol. Genet. 10:2509-2514 (2001). [PubMed]
T-L Young, L Penney, MO Woods, PS Parfrey, JS Green, D Hefferton, WS Davidson. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am. J. Hum. Genet. 64:900-904 (1999). [PubMed]
T-L Young, MO Woods, PS Parfrey, JS Green, D Hefferton, WS Davidson. A founder effect in the Newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. Am. J. Hum. Genet. 65:1680-1687 (1999a). [PubMed]
TL Young, MO Woods, PS Parfrey, JS Green, E O'Leary, D Hefferton, WS Davidson. Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am. J. Med. Genet. 78:461-467 (1998). [PubMed]
[ Top of Page | Home Page ]
B Zangerl, O Goldstein, AR Philp, SJP Lindauer, SE Pearce-Kelling, RF Mullins, AS Graphodatsky, D Ripoll, JS Felix, EM Stone, GM Acland, GD Aguirre. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563 (2006). [PubMed]
S Zareparsi, KEH Branham, M Li, S Shah, RJ Klein, J Ott, J Hoh, GR Abecasis, A Swaroop. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am. J. Hum. Genet. 77:000-000 (2005). [PubMed]
S Zareparsi, M Buraczynska, KEH Branham, S Shah, D Eng, M Li, H Pawar, BM Yashar, SE Moroi, PR Lichter, HR Petty, JE Richards, GR Abecasis, VM Elner, A Swaroop. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum. Mol. Genet. 14:1449-1455 (2005a). [PubMed]
CJ Zeiss, K Ray, GM Acland, GD Aguirre. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Hum. Mol Genet. 9:531-537 (2000). [PubMed]
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, X Zanlonghi, M-E Lancelot, C Michiels, SB Schwartz, B Bocquet, Congenital Stationary Night Blindness Consortium, A Antonio, C Audier, M Letexier, J-P Saraiva, et al., ..., I Audo. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am. J. Hum. Genet. 92:67-75 (2013). [PubMed]
C Zeitz, B Kloeckener-Gruissem, U Forster, S Kohl, I Magyar, B Wissinger, G Mátyás, FX Borruat, DF Schorderet, E Zrenner, FL Munier, W Berger. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am. J. Hum. Genet. 79:657-667 (2006). [PubMed]
C Zeitz, M van Genderen, J Neidhardt, UFO Luhmann, F Hoeben, U Forster, K Wycisk, G Mátyás, CB Hoyng, F Riemslag, F Meire, FPM Cremers, W Berger. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest. Ophthalmol. Vis. Sci. 46:4328-4335 (2005). [PubMed]
L Zelinger, E Banin, A Obolensky, L Mizrahi-Meissonnier, A Beryozkin, D Bandah-Rozenfeld, S Frenkel, T Ben-Yosef, S Merin, SB Schwartz, AV Cideciyan, SG Jacobson, D Sharon. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am. J. Hum. Genet. 88:207-215 (2011). [PubMed]
D Zhang, X Huang. Further consideration of the association between OR2W3 mutation and retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 56:8028 (2015). [PubMed]
J Zhang, C Wang, Y Shen, N Chen, L Wang, L Liang, T Guo, X Yin, Z Ma, B Zhang, L Yang. A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa. Hum. Genet. 135:1375-1387 (2016). [PubMed]
K Zhang, PP Bither, R Park, LA Donoso, JG Seidman, CE Seidman. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch. Ophthalmol. 112:759-764 (1994). [PubMed]
K Zhang, M Kniazeva, M Han, W Li, Z Yu, Z Yang, Y Li, ML Metzker, R Alikmets, DJ Zack, LE Kakuk, PS Lagali, PW Wong, IM MacDonald, PA Sieving, DJ Figueroa, CP Austin, RJ Gould, R Ayyagari, K Petrukhin. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet. 27:89-93 (2001). [PubMed]
K Zhang, M Kniazeva, A Hutchinson, M Han, M Dean, R Allikmets. The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. Genomics 60:234-237 (1999). [PubMed]
Q Zhang, GM Acland, WX Wu, JL Johnson, S Pearce-Kelling, B Tulloch, R Vervoort, AF Wright, GD Aguirre. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum. Mol. Genet. 11:993-1003 (2002). [PubMed]
Q Zhang, S Li, X Xiao, X Jia, X Guo. The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. Invest. Ophthalmol. Vis. Sci. 48:530-533 (2007a). [PubMed]
Q Zhang, M Xu, JD Verriotto, Y Li, H Wang, L Gan, BL Lam, R Chen. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci. Rep 6:32792 (2016a). [PubMed]
Q Zhang, F Zulfiqar, X Xiao, SA Riazuddin, Z Ahmad, R Caruso, I MacDonald, P Sieving, S Riazuddin, JF Hejtmancik. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum. Genet. 122:293-299 (2007). [PubMed]
Q Zhang, F Zulfiqar, X Xiao, SA Riazuddin, R Ayyagari, F Sabar, R Caruso, PA Sieving, S Riazuddin, J Fielding Hejtmancik. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum. Genet. 118:356-365 (2005). [PubMed]
X Zhang, H Liu, Y Zhang, Y Qiao, S Miao, L Wang, J Zhang, S Zong, SS Koide. A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis. J. Mol. Med. 81:380-387 (2003). [PubMed]
C Zhao, DL Bellur, S Lu, F Zhao, MA Grassi, SJ Bowne, LS Sullivan, SP Daiger, LJ Chen, CP Pang, K Zhao, JP Staley, C Larsson. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am. J. Hum. Genet. 85:617-627 (2009). [PubMed]
C Zhao, S Lu, X Zhou, X Zhang, K Zhao, C Larsson. A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. Hum. Genet. 119:617-623 (2006). [PubMed]
QY Zheng, D Yan, XM Ouyang, LL Du, H Yu, B Chang, KR Johnson, XZ Liu. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum. Mol. Genet. 14:103-111 (2004). [PubMed]
B Zhou, SK Westaway, B Levinson, MA Johnson, J Gitschier, SJ Hayflick. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat. Genet. 28:345-349 (2001). [PubMed]
Y Zhou, S Li, L Huang, Y Yang, L Zhang, M Yang, W Liu, K Ramasamy, Z Jiang, P Sundaresan, X Zhu, Z Yang. A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. Hum. Mol. Genet. 27:2563-2572 (2018). [PubMed]
I Zito, SM Downes, RJ Patel, ME Cheetham, ND Ebenezer, SA Jenkins, SS Bhattacharya, AR Webster, GE Holder, AC Bird, DE Bamiou, AJ Hardcastle. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J. Med. Genet. 40:609-615 (2003). [PubMed]
S Züchner, J Dallman, R Wen, G Beecham, A Naj, A Farooq, MA Kohli, PL Whitehead, W Hulme, I Konidari, YJK Edwards, G Cai, I Peter, D Seo, JD Buxbaum, JL Haines, S Blanton, J Young, E Alfonso, JM Vance, BL Lam, MA Peričak-Vance. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am. J. Hum. Genet. 88:201-206 (2011). [PubMed]
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