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4. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. Jiao X; Kabir F; Irum B; Khan AO; Wang Q; Li D; Khan AA; Husnain T; Akram J; Riazuddin S; Hejtmancik JF; Riazuddin SA PLoS One; 2016; 11(6):e0157005. PubMed ID: 27326458 [TBL] [Abstract][Full Text] [Related]
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6. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts. Irum B; Khan SY; Ali M; Kaul H; Kabir F; Rauf B; Fatima F; Nadeem R; Khan AO; Al Obaisi S; Naeem MA; Nasir IA; Khan SN; Husnain T; Riazuddin S; Akram J; Eghrari AO; Riazuddin SA PLoS One; 2016; 11(11):e0162620. PubMed ID: 27814360 [TBL] [Abstract][Full Text] [Related]
7. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Riazuddin SA; Yasmeen A; Zhang Q; Yao W; Sabar MF; Ahmed Z; Riazuddin S; Hejtmancik JF Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291 [TBL] [Abstract][Full Text] [Related]
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10. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract. Bateman JB; Geyer DD; Flodman P; Johannes M; Sikela J; Walter N; Moreira AT; Clancy K; Spence MA Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3278-85. PubMed ID: 11006214 [TBL] [Abstract][Full Text] [Related]
11. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496 [TBL] [Abstract][Full Text] [Related]
12. Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings. Chacon-Camacho OF; Buentello-Volante B; Velázquez-Montoya R; Ayala-Ramirez R; Zenteno JC Gene; 2014 Jan; 534(2):218-21. PubMed ID: 24211322 [TBL] [Abstract][Full Text] [Related]
13. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Zhang Q; Guo X; Xiao X; Yi J; Jia X; Hejtmancik JF Mol Vis; 2004 Nov; 10():890-900. PubMed ID: 15570218 [TBL] [Abstract][Full Text] [Related]
14. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306 [TBL] [Abstract][Full Text] [Related]
15. A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. Wang J; Ma X; Gu F; Liu NP; Hao XL; Wang KJ; Wang NL; Zhu SQ Chin Med J (Engl); 2007 May; 120(9):820-4. PubMed ID: 17531125 [TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. Bennett TM; Mackay DS; Knopf HL; Shiels A Mol Vis; 2004 Jun; 10():376-82. PubMed ID: 15208569 [TBL] [Abstract][Full Text] [Related]
17. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. Ajmal M; Khan MI; Neveling K; Khan YM; Azam M; Waheed NK; Hamel CP; Ben-Yosef T; De Baere E; Koenekoop RK; Collin RW; Qamar R; Cremers FP J Med Genet; 2014 Jul; 51(7):444-8. PubMed ID: 24737827 [TBL] [Abstract][Full Text] [Related]
18. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. Abouzeid H; Meire FM; Osman I; ElShakankiri N; Bolay S; Munier FL; Schorderet DF Ophthalmology; 2009 Jan; 116(1):154-162.e1. PubMed ID: 19004499 [TBL] [Abstract][Full Text] [Related]
19. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Bidinost C; Matsumoto M; Chung D; Salem N; Zhang K; Stockton DW; Khoury A; Megarbane A; Bejjani BA; Traboulsi EI Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1274-80. PubMed ID: 16565358 [TBL] [Abstract][Full Text] [Related]
20. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mackay DS; Andley UP; Shiels A Mol Vis; 2004 Mar; 10():155-62. PubMed ID: 15041957 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]