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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 Antińolo, 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, MF El-Ashry, WM Chan, KL Chong, I Barragán, G Antińolo, 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]
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]
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, 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, 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]
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]
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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]
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]
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]
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]
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]
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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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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]
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