249 related articles for article (PubMed ID: 14512969)
1. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Mackay DS; Andley UP; Shiels A
Eur J Hum Genet; 2003 Oct; 11(10):784-93. PubMed ID: 14512969
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
Gu F; Luo W; Li X; Wang Z; Lu S; Zhang M; Zhao B; Zhu S; Feng S; Yan YB; Huang S; Ma X
Hum Mutat; 2008 May; 29(5):769. PubMed ID: 18407550
[TBL] [Abstract][Full Text] [Related]
5. A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
Gu F; Li R; Ma XX; Shi LS; Huang SZ; Ma X
Mol Vis; 2006 Jan; 12():26-31. PubMed ID: 16446699
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
Graw J; Löster J; Soewarto D; Fuchs H; Meyer B; Reis A; Wolf E; Balling R; Hrabé de Angelis M
Invest Ophthalmol Vis Sci; 2001 Nov; 42(12):2909-15. PubMed ID: 11687536
[TBL] [Abstract][Full Text] [Related]
8. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
Sun H; Ma Z; Li Y; Liu B; Li Z; Ding X; Gao Y; Ma W; Tang X; Li X; Shen Y
J Med Genet; 2005 Sep; 42(9):706-10. PubMed ID: 16141006
[TBL] [Abstract][Full Text] [Related]
9. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
Pras E; Frydman M; Levy-Nissenbaum E; Bakhan T; Raz J; Assia EI; Goldman B; Pras E
Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3511-5. PubMed ID: 11006246
[TBL] [Abstract][Full Text] [Related]
10. Arginine 54 and Tyrosine 118 residues of {alpha}A-crystallin are crucial for lens formation and transparency.
Xia CH; Liu H; Chang B; Cheng C; Cheung D; Wang M; Huang Q; Horwitz J; Gong X
Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3004-10. PubMed ID: 16799046
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
Jiang H; Jin Y; Bu L; Zhang W; Liu J; Cui B; Kong X; Hu L
Mol Vis; 2003 Oct; 9():579-83. PubMed ID: 14627959
[TBL] [Abstract][Full Text] [Related]
13. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
[TBL] [Abstract][Full Text] [Related]
14. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.
Li Y; Wang J; Dong B; Man H
Mol Vis; 2004 Sep; 10():668-71. PubMed ID: 15448617
[TBL] [Abstract][Full Text] [Related]
15. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
Shiels A; Bennett TM; Prince JB; Tychsen L
Mol Vis; 2007 Nov; 13():2233-41. PubMed ID: 18087240
[TBL] [Abstract][Full Text] [Related]
16. Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene.
Xu WZ; Zheng S; Xu SJ; Huang W; Yao K; Zhang SZ
Chin Med J (Engl); 2004 May; 117(5):727-32. PubMed ID: 15161542
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
Gill D; Klose R; Munier FL; McFadden M; Priston M; Billingsley G; Ducrey N; Schorderet DF; Héon E
Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):159-65. PubMed ID: 10634616
[TBL] [Abstract][Full Text] [Related]
20. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
Yamada K; Tomita H; Yoshiura K; Kondo S; Wakui K; Fukushima Y; Ikegawa S; Nakamura Y; Amemiya T; Niikawa N
Eur J Hum Genet; 2000 Jul; 8(7):535-9. PubMed ID: 10909854
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
