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Journal Abstract Search

110 related items for PubMed ID: 10737996

  • 1. Novel mutations of the RPGR gene in RP3 families.
    Zito I, Gorin MB, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Mutat; 2000 Apr; 15(4):386. PubMed ID: 10737996
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  • 2. 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 Apr; 105(1-2):57-62. PubMed ID: 10480356
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  • 4. 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
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  • 7. Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
    Vervoort R, Wright AF.
    Hum Mutat; 2002 May; 19(5):486-500. PubMed ID: 11968081
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  • 8. 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; 20(5):405. PubMed ID: 12402343
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  • 10. 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
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  • 11. 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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  • 12. 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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  • 13. 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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  • 14. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
    Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD.
    Hum Mol Genet; 2002 May 01; 11(9):993-1003. PubMed ID: 11978759
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  • 15. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.
    Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM.
    Arch Ophthalmol; 1997 Nov 01; 115(11):1429-35. PubMed ID: 9366675
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  • 19. 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 01; 70(6):1545-54. PubMed ID: 11992260
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