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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]
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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]
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©1996-2022, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas