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    Results: 1 to 20 of 311

    1.

    Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

    Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GC.

    Br J Ophthalmol. 2003 Apr;87(4):411-2.PMID: 12642301 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

    Abouzeid H, Meire FM, Osman I, ElShakankiri N, Bolay S, Munier FL, Schorderet DF.

    Ophthalmology. 2009 Jan;116(1):154-162.e1. Epub 2008 Nov 12.PMID: 19004499 [PubMed - indexed for MEDLINE]Related articles

    3.

    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

    4.

    New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

    Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morlé L.

    Arch Ophthalmol. 2007 Feb;125(2):213-6.PMID: 17296897 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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

    6.

    Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

    Hansen L, Eiberg H, Rosenberg T.

    Mol Vis. 2007 Oct 18;13:2019-22.PMID: 17982426 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Novel SOX2 mutation associated with ocular coloboma in a Chinese family.

    Wang P, Liang X, Yi J, Zhang Q.

    Arch Ophthalmol. 2008 May;126(5):709-13.PMID: 18474784 [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 clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

    Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT.

    Br J Ophthalmol. 2003 Feb;87(2):197-202.PMID: 12543751 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    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

    11.

    An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.

    Zhang LY, Yam GH, Tam PO, Lai RY, Lam DS, Pang CP, Fan DS.

    Mol Vis. 2009 Jun 4;15:1127-38.PMID: 19503744 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Corneal changes in familial iris coloboma.

    Soong HK, Raizman MB.

    Ophthalmology. 1986 Mar;93(3):335-9.PMID: 3703500 [PubMed - indexed for MEDLINE]Related articles

    13.

    Family with aniridia, microcornea, and spontaneously reabsorbed cataract.

    Yamamoto Y, Hayasaka S, Setogawa T.

    Arch Ophthalmol. 1988 Apr;106(4):502-4.PMID: 3355417 [PubMed - indexed for MEDLINE]Related articles

    14.

    Simple iris coloboma in a Greek family.

    Konstas AG, Bufidis T, Kardasopoulos A.

    Acta Ophthalmol Scand. 1996 Feb;74(1):89-92.PMID: 8689492 [PubMed - indexed for MEDLINE]Related articles

    15.

    [Juvenile cataract associated with microcornea and glucosuria: a new syndrome]

    Vandekerckhove K, Lange AP, Herzog D, Schipper I.

    Klin Monbl Augenheilkd. 2007 Apr;224(4):344-6. German. PMID: 17458810 [PubMed - indexed for MEDLINE]Related articles

    16.

    A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

    Perveen R, Favor J, Jamieson RV, Ray DW, Black GC.

    Hum Mol Genet. 2007 May 1;16(9):1030-8. Epub 2007 Mar 20.PMID: 17374726 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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 9;14:323-6.PMID: 18334946 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    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

    19.

    [Morphological and functional findings in a family with aniridia (author's transl)]

    Weber U, Petersen J.

    Klin Monbl Augenheilkd. 1981 Jun;178(6):439-45. German. PMID: 6973663 [PubMed - indexed for MEDLINE]Related articles

    20.

    Corectopia with nystagmus, absent foveal reflexes and corneal changes.

    Mondino BJ, Cohn HC.

    Acta Ophthalmol (Copenh). 1981 Feb;59(1):85-93.PMID: 7211287 [PubMed - indexed for MEDLINE]Related articles

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