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Journal Abstract Search

215 related items for PubMed ID: 22669729

  • 41. A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
    Vanita V, Singh JR, Singh D, Varon R, Sperling K.
    Mol Vis; 2008 Feb 09; 14():323-6. PubMed ID: 18334946
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  • 42. Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.
    Vanita V, Goyal S, Tibrewal S, Ganesh S.
    Front Pediatr; 2022 Feb 09; 10():1003909. PubMed ID: 36533234
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  • 46. A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
    Zhang L, Fu S, Ou Y, Zhao T, Su Y, Liu P.
    Mol Vis; 2009 Feb 09; 15():276-82. PubMed ID: 19204787
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  • 47. 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 09; 117(5):727-32. PubMed ID: 15161542
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  • 50. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
    Yao K, Jin C, Zhu N, Wang W, Wu R, Jiang J, Shentu X.
    Mol Vis; 2008 Jul 09; 14():1272-6. PubMed ID: 18618005
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  • 51. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
    Dudakova L, Stranecky V, Ulmanova O, Hlavova E, Trková M, Vincent AL, Liskova P.
    Mol Biol Rep; 2017 Dec 09; 44(6):435-440. PubMed ID: 28849415
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  • 53. Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.
    Messina-Baas OM, Gonzalez-Huerta LM, Cuevas-Covarrubias SA.
    Mol Vis; 2006 Aug 24; 12():995-1000. PubMed ID: 16943771
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  • 55. A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.
    Gonzalez-Huerta LM, Messina-Baas OM, Cuevas-Covarrubias SA.
    Mol Vis; 2007 Jul 26; 13():1333-8. PubMed ID: 17679936
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  • 58. 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 26; 65(5):1261-7. PubMed ID: 10521291
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  • 59. 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. PubMed ID: 18432316
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  • 60. Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
    Zhang X, Wang L, Wang J, Dong B, Li Y.
    Mol Vis; 2012 Apr 18; 18():203-10. PubMed ID: 22312188
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