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Journal Abstract Search

394 related items for PubMed ID: 9366675

  • 1.
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  • 2. 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. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 3. 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. PubMed ID: 11559860
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 9488274
    [Abstract] [Full Text] [Related]

  • 5. Phenotype in two families with RP3 associated with RPGR mutations.
    Lorenz B, Andrassi M, Kretschmann U.
    Ophthalmic Genet; 2003 Jun; 24(2):89-101. PubMed ID: 12789573
    [Abstract] [Full Text] [Related]

  • 6. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene.
    Andréasson S, Ponjavic V, Abrahamson M, Ehinger B, Wu W, Fujita R, Buraczynska M, Swaroop A.
    Am J Ophthalmol; 1997 Jul; 124(1):95-102. PubMed ID: 9222238
    [Abstract] [Full Text] [Related]

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

  • 8. 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]

  • 9. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
    Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N.
    Am J Med Genet; 2001 Dec 01; 104(3):232-8. PubMed ID: 11754050
    [Abstract] [Full Text] [Related]

  • 10. 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 Dec 01; 105(1-2):57-62. PubMed ID: 10480356
    [Abstract] [Full Text] [Related]

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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
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 24(4):215-23. PubMed ID: 14566651
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 39(12):2470-4. PubMed ID: 9804156
    [Abstract] [Full Text] [Related]

  • 16.
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  • 17. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.
    Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A.
    Ophthalmic Genet; 1998 Dec 01; 19(4):187-96. PubMed ID: 9895243
    [Abstract] [Full Text] [Related]

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  • 19. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.
    Grover S, Fishman GA, Anderson RJ, Lindeman M.
    Ophthalmology; 2000 Feb 01; 107(2):386-96. PubMed ID: 10690843
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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