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Journal Abstract Search

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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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