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227 related items for PubMed ID: 9418727

  • 1. 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; 38(13):2750-5. PubMed ID: 9418727
    [Abstract] [Full Text] [Related]

  • 2. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Jul; 41(8):2080-6. PubMed ID: 10892847
    [Abstract] [Full Text] [Related]

  • 3. Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.
    Seymour AB, Dash-Modi A, O'Connell JR, Shaffer-Gordon M, Mah TS, Stefko ST, Nagaraja R, Brown J, Kimura AE, Ferrell RE, Gorin MB.
    Am J Hum Genet; 1998 Jan; 62(1):122-9. PubMed ID: 9443860
    [Abstract] [Full Text] [Related]

  • 4. 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 Jan; 46(4):241-3. PubMed ID: 11322665
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
    Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N.
    Hum Mol Genet; 1995 May; 4(5):931-5. PubMed ID: 7633454
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. [Gene diagnosis of X linked retinitis pigmentosa by linkage analysis].
    Liu M, Wei Y, Liu L.
    Zhonghua Yi Xue Za Zhi; 1999 Jan; 79(1):54-6. PubMed ID: 11601008
    [Abstract] [Full Text] [Related]

  • 11. 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. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 12. 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 Sep; 105(1-2):57-62. PubMed ID: 10480356
    [Abstract] [Full Text] [Related]

  • 13. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
    Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A.
    Am J Hum Genet; 1998 Nov; 63(5):1439-47. PubMed ID: 9792872
    [Abstract] [Full Text] [Related]

  • 14. A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.
    Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A.
    Am J Hum Genet; 1996 Jul; 59(1):152-8. PubMed ID: 8659520
    [Abstract] [Full Text] [Related]

  • 15. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
    Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC.
    Br J Ophthalmol; 1999 Oct; 83(10):1144-8. PubMed ID: 10502575
    [Abstract] [Full Text] [Related]

  • 16. [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families].
    Liu L, Wei Y, Chen H.
    Zhonghua Yi Xue Za Zhi; 2001 Jan 25; 81(2):71-2. PubMed ID: 11798852
    [Abstract] [Full Text] [Related]

  • 17. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
    Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A.
    Nat Genet; 2000 Nov 25; 26(3):324-7. PubMed ID: 11062472
    [Abstract] [Full Text] [Related]

  • 18. 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 25; 22(4):396-8. PubMed ID: 16086276
    [Abstract] [Full Text] [Related]

  • 19. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.
    Gal A, Schinzel A, Orth U, Fraser NA, Mollica F, Craig IW, Kruse T, Mächler M, Neugebauer M, Bleeker-Wagemakers LM.
    Hum Genet; 1989 Mar 25; 81(4):315-8. PubMed ID: 2564836
    [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 25; 50(11):5107-14. PubMed ID: 19516003
    [Abstract] [Full Text] [Related]

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