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Journal Abstract Search

473 related items for PubMed ID: 12657579

  • 1. 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; 44(4):1458-63. PubMed ID: 12657579
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  • 3. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
    Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.
    Mol Vis; 2008 Jun 06; 14():1081-93. PubMed ID: 18552978
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  • 4. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
    Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.
    Am J Hum Genet; 2003 Nov 06; 73(5):1131-46. PubMed ID: 14564670
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  • 5. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
    Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.
    Am J Hum Genet; 2002 Jun 06; 70(6):1545-54. PubMed ID: 11992260
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  • 7. 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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  • 9. 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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  • 11. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
    Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2013 Feb 19; 54(2):1411-6. PubMed ID: 23372056
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  • 12. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
    Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.
    Mol Vis; 2006 Oct 06; 12():1167-74. PubMed ID: 17093403
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  • 13. 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 06; 47(9):3777-82. PubMed ID: 16936086
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  • 14. 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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  • 15. Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.
    Jacobi FK, Karra D, Broghammer M, Blin N, Pusch CM.
    Int J Mol Med; 2005 Dec 01; 16(6):1175-8. PubMed ID: 16273303
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  • 16. 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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  • 17. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.
    Arch Ophthalmol; 2008 Mar 01; 126(3):379-84. PubMed ID: 18332319
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  • 18. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
    Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.
    Curr Eye Res; 2010 Jan 01; 35(1):73-9. PubMed ID: 20021257
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  • 19. 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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  • 20. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
    Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF.
    Nat Genet; 2000 Aug 01; 25(4):462-6. PubMed ID: 10932196
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