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    Results: 1 to 20 of 229

    1.

    Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

    Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM.

    Br J Ophthalmol. 2004 Jan;88(1):79-83.PMID: 14693780 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Crystallin gene mutations in Indian families with inherited pediatric cataract.

    Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF.

    Mol Vis. 2008 Jun 16;14:1157-70.PMID: 18587492 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    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.PMID: 11006214 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

    Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T.

    Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. Epub 2009 Jan 31.PMID: 19182255 [PubMed - indexed for MEDLINE]Related articles

    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.PMID: 19390652 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

    Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF.

    Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6.PMID: 15914629 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

    Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.

    Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44.PMID: 17724170 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

    Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.

    Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6.PMID: 16877416 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Qi Y, Jia H, Huang S, Lin H, Gu J, Su H, Zhang T, Gao Y, Qu L, Li D, Li Y.

    Hum Genet. 2004 Jan;114(2):192-7. Epub 2003 Nov 4.PMID: 14598164 [PubMed - indexed for MEDLINE]Related articles

    10.

    Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations.

    Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C.

    Mol Vis. 2007 Jul 13;13:1154-60.PMID: 17653060 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    [Localization and screening of autosomal dominant coralliform cataract associated gene]

    Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ.

    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):19-22. Chinese. PMID: 14767902 [PubMed - indexed for MEDLINE]Related articles

    12.

    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.PMID: 11006246 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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.PMID: 18334953 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.

    Devi RR, Reena C, Vijayalakshmi P.

    Mol Vis. 2005 Oct 11;11:846-52.PMID: 16254549 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.

    Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL.

    Invest Ophthalmol Vis Sci. 2004 May;45(5):1436-41.PMID: 15111599 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    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 17;10:155-62.PMID: 15041957 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Further genetic heterogeneity for autosomal dominant human sutural cataracts.

    Klopp N, Héon E, Billingsley G, Illig T, Wjst M, Rudolph G, Graw J.

    Ophthalmic Res. 2003 Mar-Apr;35(2):71-7.PMID: 12646746 [PubMed - indexed for MEDLINE]Related articles

    18.

    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 10;12:26-31.PMID: 16446699 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

    Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X.

    Mol Vis. 2008 Apr 18;14:727-31.PMID: 18432316 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    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.PMID: 19262743 [PubMed - indexed for MEDLINE]Related articlesFree article

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