PubMed

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

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FD, Black GC.

Am J Ophthalmol. 2006 Feb;141(2):418-20.PMID: 16458719 [PubMed - indexed for MEDLINE]Related articles

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

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G.

Invest Ophthalmol Vis Sci. 2005 Jan;46(1):17-23.PMID: 15623749 [PubMed - indexed for MEDLINE]Related articlesFree article

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.

Ophthalmology. 2002 Oct;109(10):1862-70.PMID: 12359607 [PubMed - indexed for MEDLINE]Related articles

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

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

Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.

Kniazeva MF, Chiang MF, Cutting GR, Zack DJ, Han M, Zhang K.

Ophthalmic Genet. 1999 Jun;20(2):71-81.PMID: 10420191 [PubMed - indexed for MEDLINE]Related articles

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

Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree.

Ramprasad VL, Sripriya S, Ronnie G, Nancarrow D, Saxena S, Hemamalini A, Kumar D, Vijaya L, Kumaramanickavel G.

Mol Vis. 2005 Nov 3;11:934-40.PMID: 16288197 [PubMed - indexed for MEDLINE]Related articlesFree article

A locus for isolated cataract on human Xp.

Francis PJ, Berry V, Hardcastle AJ, Maher ER, Moore AT, Bhattacharya SS.

J Med Genet. 2002 Feb;39(2):105-9.PMID: 11836358 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K.

Mol Vis. 2006 May 22;12:518-22.PMID: 16735993 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:890-900.PMID: 15570218 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM.

Hum Mol Genet. 1997 Apr;6(4):597-600.PMID: 9097965 [PubMed - indexed for MEDLINE]Related articlesFree article

Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

Ismail M, Abid A, Anwar K, Mehdi SQ, Khaliq S.

J Hum Genet. 2006;51(9):827-31. Epub 2006 Aug 3.PMID: 16897189 [PubMed - indexed for MEDLINE]Related articles

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP.

Invest Ophthalmol Vis Sci. 2004 Jan;45(1):30-5.PMID: 14691150 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G.

Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5063-6.PMID: 14638698 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

Francis PJ, Johnson S, Edmunds B, Kelsell RE, Sheridan E, Garrett C, Holder GE, Hunt DM, Moore AT.

Br J Ophthalmol. 2003 Jul;87(7):893-8.PMID: 12812894 [PubMed - indexed for MEDLINE]Related articlesFree article

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