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Journal Abstract Search

457 related items for PubMed ID: 23150612

  • 1. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
    Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A.
    Invest Ophthalmol Vis Sci; 2012 Dec 13; 53(13):8232-7. PubMed ID: 23150612
    [Abstract] [Full Text] [Related]

  • 2. 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 06; 14():1081-93. PubMed ID: 18552978
    [Abstract] [Full Text] [Related]

  • 3. 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 06; 12():1167-74. PubMed ID: 17093403
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
    Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2013 Feb 19; 54(2):1411-6. PubMed ID: 23372056
    [Abstract] [Full Text] [Related]

  • 5. 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 19; 24(4):215-23. PubMed ID: 14566651
    [Abstract] [Full Text] [Related]

  • 6. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
    Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.
    Curr Eye Res; 2010 Jan 19; 35(1):73-9. PubMed ID: 20021257
    [Abstract] [Full Text] [Related]

  • 7. 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 19; 28(1):81-91. PubMed ID: 16969763
    [Abstract] [Full Text] [Related]

  • 8. Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
    Kuruvilla SE, Song E, Raoof N, van Bysterveldt K, Oliver VF, Hong SC, Al-Taie R, Wilson G, Vincent AL.
    Clin Exp Ophthalmol; 2023 Jan 19; 51(4):300-312. PubMed ID: 36882936
    [Abstract] [Full Text] [Related]

  • 9. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
    Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.
    Am J Hum Genet; 2003 Nov 19; 73(5):1131-46. PubMed ID: 14564670
    [Abstract] [Full Text] [Related]

  • 10. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
    Haddad MF, Khabour OF, Abuzaideh KA, Shihadeh W.
    Genet Mol Res; 2016 Jun 03; 15(2):. PubMed ID: 27323122
    [Abstract] [Full Text] [Related]

  • 11. 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 03; 44(4):1458-63. PubMed ID: 12657579
    [Abstract] [Full Text] [Related]

  • 12. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
    Prokisch H, Hartig M, Hellinger R, Meitinger T, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2007 Sep 03; 48(9):4012-8. PubMed ID: 17724181
    [Abstract] [Full Text] [Related]

  • 13. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
    García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2006 Sep 03; 47(9):3777-82. PubMed ID: 16936086
    [Abstract] [Full Text] [Related]

  • 14. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
    Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E.
    Eur J Ophthalmol; 2017 Mar 10; 27(2):240-248. PubMed ID: 27768226
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 70(6):1545-54. PubMed ID: 11992260
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 41(9):2712-21. PubMed ID: 10937588
    [Abstract] [Full Text] [Related]

  • 17. Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
    Lyraki R, Megaw R, Hurd T.
    Biochem Soc Trans; 2016 Oct 15; 44(5):1235-1244. PubMed ID: 27911705
    [Abstract] [Full Text] [Related]

  • 18. Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
    Jiang J, Wu X, Shen D, Dong L, Jiao X, Hejtmancik JF, Li N.
    Sci Rep; 2017 Mar 15; 7():44465. PubMed ID: 28294154
    [Abstract] [Full Text] [Related]

  • 19. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H, Diez Montero C, Villanueva Gómez A, Lobo Valentin R, Montero-Moreno JA.
    Ophthalmic Genet; 2019 Apr 15; 40(2):170-176. PubMed ID: 31033374
    [Abstract] [Full Text] [Related]

  • 20. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
    Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.
    Invest Ophthalmol Vis Sci; 2009 Nov 15; 50(11):5107-14. PubMed ID: 19516003
    [Abstract] [Full Text] [Related]

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