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    Results: 1 to 20 of 204

    1.

    Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.

    Addison PK, Berry V, Ionides AC, Francis PJ, Bhattacharya SS, Moore AT.

    Br J Ophthalmol. 2005 Feb;89(2):138-41.PMID: 15665340 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.

    Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ.

    Mol Vis. 2008;14:2010-5. Epub 2008 Nov 5.PMID: 18989383 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

    Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC.

    Nat Genet. 1998 Jun;19(2):167-70.PMID: 9620774 [PubMed - indexed for MEDLINE]Related articles

    4.

    Posterior polar cataract: genetic analysis of a large family.

    Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O.

    Ophthalmic Genet. 2005 Sep;26(3):125-30.PMID: 16272057 [PubMed - indexed for MEDLINE]Related articles

    5.

    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.PMID: 16565358 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    The PITX3 gene in posterior polar congenital cataract in Australia.

    Burdon KP, McKay JD, Wirth MG, Russell-Eggit IM, Bhatti S, Ruddle JB, Dimasi D, Mackey DA, Craig JE.

    Mol Vis. 2006 Apr 18;12:367-71.PMID: 16636655 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Functional analysis of human mutations in homeodomain transcription factor PITX3.

    Sakazume S, Sorokina E, Iwamoto Y, Semina EV.

    BMC Mol Biol. 2007 Sep 21;8:84.PMID: 17888164 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

    Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB.

    Am J Med Genet A. 2008 Apr 1;146(7):833-42.PMID: 18302245 [PubMed - indexed for MEDLINE]Related articles

    9.

    A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

    Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

    Am J Med Genet A. 2006 Mar 15;140(6):558-66.PMID: 16470690 [PubMed - indexed for MEDLINE]Related articles

    10.

    Variable expressivity of autosomal dominant microcornea with cataract.

    Salmon JF, Wallis CE, Murray AD.

    Arch Ophthalmol. 1988 Apr;106(4):505-10.PMID: 3355418 [PubMed - indexed for MEDLINE]Related articles

    11.

    Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

    Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC.

    Hum Mol Genet. 2002 Jan 1;11(1):33-42.PMID: 11772997 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

    Pras E, Mahler O, Kumar V, Frydman M, Gefen N, Pras E, Hejtmancik JF.

    J Med Genet. 2006 Oct;43(10):e50.PMID: 17047090 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Clinical and genetic heterogeneity in autosomal dominant cataract.

    Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A.

    Br J Ophthalmol. 1999 Jul;83(7):802-8.PMID: 10381667 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

    Francis P, Berry V, Bhattacharya S, Moore A.

    Br J Ophthalmol. 2000 Dec;84(12):1376-9.PMID: 11090476 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).

    Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS.

    J Med Genet. 2004 Aug;41(8):e109. No abstract available. PMID: 15286169 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

    Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.

    Am J Ophthalmol. 2000 Feb;129(2):159-65.PMID: 10682967 [PubMed - indexed for MEDLINE]Related articles

    17.

    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

    18.

    A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

    Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M.

    Acta Ophthalmol. 2009 Feb;87(1):52-7. Epub 2008 Jun 19.PMID: 18616618 [PubMed - indexed for MEDLINE]Related articles

    19.

    Autosomal dominant cataracts and Peters anomaly in a large Australian family.

    Withers SJ, Gole GA, Summers KM.

    Clin Genet. 1999 Apr;55(4):240-7.PMID: 10361984 [PubMed - indexed for MEDLINE]Related articles

    20.

    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

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