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311 related items for PubMed ID: 16936086

  • 1. 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; 47(9):3777-82. PubMed ID: 16936086
    [Abstract] [Full Text] [Related]

  • 2. 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; 48(9):4012-8. PubMed ID: 17724181
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  • 4. 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. PubMed ID: 10937588
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  • 5. 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; 50(11):5107-14. PubMed ID: 19516003
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  • 6. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
    Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A.
    Hum Mutat; 2001 Aug; 18(2):109-19. PubMed ID: 11462235
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  • 7. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y, Dong B, Hu AL, Cui TT, Zheng YY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276
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  • 9. Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.
    Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB.
    Neurosci Lett; 2011 Aug 01; 500(1):16-9. PubMed ID: 21683121
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  • 10. 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 01; 44(4):1458-63. PubMed ID: 12657579
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  • 12. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
    Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 1997 Dec 01; 38(13):2750-5. PubMed ID: 9418727
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  • 13. Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
    Guevara-Fujita M, Fahrner S, Buraczynska K, Cook J, Wheaton D, Cortes F, Vicencio C, Pena M, Fishman G, Mintz-Hittner H, Birch D, Hoffman D, Mears A, Fujita R, Swaroop A.
    Hum Mutat; 2001 Feb 01; 17(2):151. PubMed ID: 11180598
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  • 14. RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
    Veltel S, Wittinghofer A.
    Expert Opin Ther Targets; 2009 Oct 01; 13(10):1239-51. PubMed ID: 19702441
    [Abstract] [Full Text] [Related]

  • 15. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
    Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Genet; 1999 Oct 01; 105(1-2):57-62. PubMed ID: 10480356
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  • 16. 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
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  • 17. 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
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  • 18. 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 03; 70(6):1545-54. PubMed ID: 11992260
    [Abstract] [Full Text] [Related]

  • 19. 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
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  • 20. 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 10; 73(5):1131-46. PubMed ID: 14564670
    [Abstract] [Full Text] [Related]

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