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    Results: 1 to 20 of 333

    1.

    An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.

    Dandekar SS, Ebenezer ND, Grayson C, Chapple JP, Egan CA, Holder GE, Jenkins SA, Fitzke FW, Cheetham ME, Webster AR, Hardcastle AJ.

    Br J Ophthalmol. 2004 Apr;88(4):528-32.PMID: 15031171 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.

    Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.

    Mol Vis. 2006 Oct 6;12:1167-74.PMID: 17093403 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

    Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.

    Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.PMID: 10937588 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

    Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.

    Ophthalmic Genet. 2003 Dec;24(4):215-23.PMID: 14566651 [PubMed - indexed for MEDLINE]Related articles

    5.

    Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

    Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

    Mol Vis. 2008 Jun 6;14:1081-93.PMID: 18552978 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.

    Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A.

    Arch Ophthalmol. 1998 Feb;116(2):213-8.PMID: 9488274 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

    Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.PMID: 9331262 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.

    Ophthalmology. 1998 Dec;105(12):2286-96.PMID: 9855162 [PubMed - indexed for MEDLINE]Related articles

    9.

    X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

    Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

    Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.PMID: 12657579 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

    De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G.

    Mutat Res. 2001 Jan;432(3-4):79-82.PMID: 11465545 [PubMed - indexed for MEDLINE]Related articles

    11.

    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

    Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

    Hum Mutat. 2007 Jan;28(1):81-91.PMID: 16969763 [PubMed - indexed for MEDLINE]Related articles

    12.

    Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

    Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH.

    Exp Eye Res. 2002 Oct;75(4):431-43.PMID: 12387791 [PubMed - indexed for MEDLINE]Related articles

    13.

    Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.

    Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.

    Ophthalmic Genet. 2001 Sep;22(3):187-94.PMID: 11559860 [PubMed - indexed for MEDLINE]Related articles

    14.

    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

    15.

    Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.

    Hiraoka M, Trese MT, Shastry BS.

    J Hum Genet. 2001;46(4):241-3.PMID: 11322665 [PubMed - indexed for MEDLINE]Related articles

    16.

    A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

    Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

    Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.PMID: 11992260 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.

    Mashima Y, Saga M, Hiida Y, Imamura Y, Kudoh J, Shimizu N.

    Am J Ophthalmol. 2000 Sep;130(3):357-9.PMID: 11020419 [PubMed - indexed for MEDLINE]Related articles

    18.

    A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.

    Wada Y, Nakazawa M, Abe T, Tamai M.

    Invest Ophthalmol Vis Sci. 2000 Jan;41(1):290-3.PMID: 10634633 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

    Rosenberg T, Schwahn U, Feil S, Berger W.

    Ophthalmic Genet. 1999 Sep;20(3):161-72.PMID: 10520237 [PubMed - indexed for MEDLINE]Related articles

    20.

    Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

    Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD.

    Br J Ophthalmol. 2007 Jan;91(1):89-93. Epub 2006 Aug 17.PMID: 16916875 [PubMed - indexed for MEDLINE]Related articles

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