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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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  • 5. 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 Sep; 13(2):141-5. PubMed ID: 10094550
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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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  • 9. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
    Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA.
    Hum Mol Genet; 2000 Sep 01; 9(14):2095-105. PubMed ID: 10958648
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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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  • 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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  • 16. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.
    Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S.
    J Med Genet; 2006 Apr 01; 43(4):326-33. PubMed ID: 16055928
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  • 18. 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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