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Journal Abstract Search

388 related items for PubMed ID: 19516003

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 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. PubMed ID: 10937588
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  • 5. 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. PubMed ID: 16969763
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  • 6. Novel frameshift mutations in the RP2 gene and polymorphic variants.
    Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Mutat; 2000 Jun; 15(6):580. PubMed ID: 10862093
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  • 7. 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. PubMed ID: 10634633
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  • 8. 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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  • 9. 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 01; 18(2):109-19. PubMed ID: 11462235
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  • 11. 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
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  • 12. 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 01; 22(4):396-8. PubMed ID: 16086276
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  • 15. 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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  • 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. Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
    Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls TJ, Andréasson S, Swaroop A.
    Invest Ophthalmol Vis Sci; 1998 Nov 19; 39(12):2470-4. PubMed ID: 9804156
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  • 18. 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
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  • 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. Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
    Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.
    Hum Mutat; 1999 Mar 10; 13(2):141-5. PubMed ID: 10094550
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