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212 related items for PubMed ID: 10482958

  • 1. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
    Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A.
    Eur J Hum Genet; 1999 Sep; 7(6):687-94. PubMed ID: 10482958
    [Abstract] [Full Text] [Related]

  • 2. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
    Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A.
    Am J Hum Genet; 1997 Dec; 61(6):1287-92. PubMed ID: 9399904
    [Abstract] [Full Text] [Related]

  • 3. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.
    Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A.
    Am J Hum Genet; 1997 Sep; 61(3):571-80. PubMed ID: 9326322
    [Abstract] [Full Text] [Related]

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

  • 5. 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; 25(4):462-6. PubMed ID: 10932196
    [Abstract] [Full Text] [Related]

  • 6. 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; 70(6):1545-54. PubMed ID: 11992260
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
    Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE.
    JAMA Ophthalmol; 2020 Nov 01; 138(11):1151-1158. PubMed ID: 32970112
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 01; 22(3):187-94. PubMed ID: 11559860
    [Abstract] [Full Text] [Related]

  • 11. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
    Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A.
    Nat Genet; 1996 May 01; 13(1):35-42. PubMed ID: 8673101
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. 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 01; 124(1):95-102. PubMed ID: 9222238
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).
    Zeiss CJ, Ray K, Acland GM, Aguirre GD.
    Hum Mol Genet; 2000 Mar 01; 9(4):531-7. PubMed ID: 10699176
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
    Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W.
    Hum Mol Genet; 1999 Aug 01; 8(8):1571-8. PubMed ID: 10401007
    [Abstract] [Full Text] [Related]

  • 19. 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]

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

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