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Journal Abstract Search

380 related items for PubMed ID: 11968081

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  • 2. 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
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  • 4. Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.
    Pusch CM, Broghammer M, Jurklies B, Besch D, Jacobi FK.
    Hum Mutat; 2002 Nov 01; 20(5):405. PubMed ID: 12402343
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  • 6. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
    Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W.
    Hum Genet; 2001 Sep 01; 109(3):271-8. PubMed ID: 11702207
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  • 8. RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
    Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.
    Br J Ophthalmol; 2009 Sep 01; 93(9):1151-4. PubMed ID: 19429592
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  • 11. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
    Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH.
    Exp Eye Res; 2002 Oct 01; 75(4):431-43. PubMed ID: 12387791
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  • 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 Oct 01; 105(1-2):57-62. PubMed ID: 10480356
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  • 14. 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 01; 28(1):81-91. PubMed ID: 16969763
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  • 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
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  • 16. 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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  • 17. 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 01; 41(9):2712-21. PubMed ID: 10937588
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