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    Results: 1 to 20 of 668

    1.

    Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

    Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.

    Br J Ophthalmol. 2008 Aug;92(8):1086-91.PMID: 18653602 [PubMed - indexed for MEDLINE]Related articles

    2.

    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

    3.

    Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.

    Tzekov RT, Sohocki MM, Daiger SP, Birch DG.

    Ophthalmic Genet. 2000 Jun;21(2):89-99.PMID: 10916183 [PubMed - indexed for MEDLINE]Related articles

    4.

    Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.

    Itabashi T, Wada Y, Sato H, Kawamura M, Shiono T, Tamai M.

    Am J Ophthalmol. 2004 Nov;138(5):876-7.PMID: 15531334 [PubMed - indexed for MEDLINE]Related articles

    5.

    A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

    Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP.

    Am J Hum Genet. 1998 Nov;63(5):1307-15.PMID: 9792858 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

    Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

    Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.PMID: 17320181 [PubMed - indexed for MEDLINE]Related articles

    7.

    Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

    Tzekov RT, Liu Y, Sohocki MM, Zack DJ, Daiger SP, Heckenlively JR, Birch DG.

    Invest Ophthalmol Vis Sci. 2001 May;42(6):1319-27.PMID: 11328746 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.

    Itabashi T, Wada Y, Sato H, Kunikata H, Kawamura M, Tamai M.

    Graefes Arch Clin Exp Ophthalmol. 2003 Jul;241(7):535-40. Epub 2003 Jun 18.PMID: 12819982 [PubMed - indexed for MEDLINE]Related articles

    9.

    Progressive cone dystrophy associated with mutation in CNGB3.

    Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.

    Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82.PMID: 15161866 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

    Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.

    Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2417-26.PMID: 9804150 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

    Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ.

    Neuron. 1997 Dec;19(6):1329-36.PMID: 9427255 [PubMed - indexed for MEDLINE]Related articles

    12.

    Phenotype in two families with RP3 associated with RPGR mutations.

    Lorenz B, Andrassi M, Kretschmann U.

    Ophthalmic Genet. 2003 Jun;24(2):89-101.PMID: 12789573 [PubMed - indexed for MEDLINE]Related articles

    13.

    Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.

    Xi Q, Li L, Traboulsi EI, Wang QK.

    Mol Vis. 2009;15:638-45. Epub 2009 Apr 3.PMID: 19352439 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

    Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT.

    Br J Ophthalmol. 2003 Nov;87(11):1317-20. Erratum in: Br J Ophthalmol. 2004 Feb;88(2):314. PMID: 14609822 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.

    Ophthalmology. 2005 Aug;112(8):1442-7.PMID: 15953638 [PubMed - indexed for MEDLINE]Related articles

    16.

    Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

    Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA.

    Am J Ophthalmol. 2003 Oct;136(4):678-87.PMID: 14516808 [PubMed - indexed for MEDLINE]Related articles

    17.

    A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

    Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.

    Br J Ophthalmol. 2005 Feb;89(2):198-206.PMID: 15665353 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.

    Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5.PMID: 16565402 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.

    Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B.

    Ophthalmic Genet. 1998 Mar;19(1):27-37.PMID: 9587927 [PubMed - indexed for MEDLINE]Related articles

    20.

    Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

    Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.

    Ophthalmology. 2005 Sep;112(9):1592-8.PMID: 16019073 [PubMed - indexed for MEDLINE]Related articles

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