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Items: 1 to 20 of 102

1.

A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain.

Johnson AC, Lee JW, Harmon AC, Morris Z, Wang X, Fratkin J, Rapp JP, Gomez-Sanchez E, Garrett MR.

Mamm Genome. 2013 Apr;24(3-4):95-104. doi: 10.1007/s00335-013-9447-1. Epub 2013 Feb 13.

2.

A 1-bp deletion in the gammaC-crystallin leads to dominant cataracts in mice.

Zhao L, Li K, Bao S, Zhou Y, Liang Y, Zhao G, Chen Y, Xiao J.

Mamm Genome. 2010 Aug;21(7-8):361-9. doi: 10.1007/s00335-010-9275-5. Epub 2010 Aug 5.

PMID:
20686773
3.
4.

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).

VanderVeen DK, Andrews C, Nihalani BR, Engle EC.

Mol Vis. 2011;17:3333-8. Epub 2011 Dec 20.

5.

Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.

Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M.

Mol Vis. 2009;15:793-800. Epub 2009 Apr 17.

6.

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.

AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F.

Mol Vis. 2012;18:2931-6. Epub 2012 Dec 9.

7.

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.

PMID:
15161542
8.

Hereditary cataracts in the John Rapp inbred strain of Dahl salt-sensitive rat.

Margo CE, Gomez-Sanchez EP, Gstalder R.

Invest Ophthalmol Vis Sci. 1987 Aug;28(8):1422-8.

PMID:
3610557
9.

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

Nandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L.

J Med Genet. 2003 Apr;40(4):262-7.

10.

Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse.

Graw J, Neuhäuser-Klaus A, Klopp N, Selby PB, Löster J, Favor J.

Invest Ophthalmol Vis Sci. 2004 Apr;45(4):1202-13.

PMID:
15037589
11.
12.

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

Vanita V, Singh JR, Singh D, Varon R, Sperling K.

Mol Vis. 2009;15:476-81. Epub 2009 Mar 4.

13.

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W, Xiao X, Li S, Guo X, Zhang Q.

Mol Vis. 2011;17:2197-206. Epub 2011 Aug 16.

14.
15.

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y, Li J, Zhu Y, Xia Y, Wang W, Yu Y, Yao K.

Int J Med Sci. 2014 Jan 5;11(2):158-63. doi: 10.7150/ijms.7567. eCollection 2014.

16.

V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice.

Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M.

Mamm Genome. 2002 Aug;13(8):452-5.

PMID:
12226711
17.

The gamma-crystallins and human cataracts: a puzzle made clearer.

Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL.

Am J Hum Genet. 1999 Nov;65(5):1261-7.

18.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Li F, Wang S, Gao C, Liu S, Zhao B, Zhang M, Huang S, Zhu S, Ma X.

Mol Vis. 2008 Mar 4;14:378-86.

19.

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.

Kumar M, Agarwal T, Khokhar S, Kumar M, Kaur P, Roy TS, Dada R.

Mol Vis. 2011 Mar 11;17:693-707.

20.

Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.

Plotnikova OV, Kondrashov FA, Vlasov PK, Grigorenko AP, Ginter EK, Rogaev EI.

Am J Hum Genet. 2007 Jul;81(1):32-43. Epub 2007 May 16.

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