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499 related items for PubMed ID: 11754050

  • 1. 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]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
    Vervoort R, Wright AF.
    Hum Mutat; 2002 May 01; 19(5):486-500. PubMed ID: 11968081
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 6. 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
    [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 01; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 8. 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]

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

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Chen H, Liu M, Jin L, Wei Y, Wu X, Liu Y, Xhu R, Chai J.
    Chin Med J (Engl); 2002 Jun 01; 115(6):833-6. PubMed ID: 12123547
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
    Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A.
    Hum Mutat; 1998 Aug 01; 12(3):212-3. PubMed ID: 10651485
    [Abstract] [Full Text] [Related]

  • 15. 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 Aug 01; 13(2):141-5. PubMed ID: 10094550
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
    Jin ZB, Gu F, Ma X, Nao-i N.
    Arch Ophthalmol; 2007 Oct 01; 125(10):1407-12. PubMed ID: 17923551
    [Abstract] [Full Text] [Related]

  • 19. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
    Demirci FY, Rigatti BW, Mah TS, Gorin MB.
    Am J Ophthalmol; 2006 Jan 01; 141(1):208-10. PubMed ID: 16387007
    [Abstract] [Full Text] [Related]

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

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