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Journal Abstract Search

292 related items for PubMed ID: 8673101

  • 1. 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; 13(1):35-42. PubMed ID: 8673101
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  • 2. 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
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  • 4. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
    Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J.
    Proc Natl Acad Sci U S A; 1999 Feb 16; 96(4):1315-20. PubMed ID: 9990021
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  • 8. 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 16; 61(6):1287-92. PubMed ID: 9399904
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  • 9. 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. Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
    Jin ZB, Liu XQ, Uchida A, Vervoort R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-i N.
    Mol Vis; 2005 Jul 19; 11():535-41. PubMed ID: 16052169
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  • 13. Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
    Vervoort R, Wright AF.
    Hum Mutat; 2002 May 19; 19(5):486-500. PubMed ID: 11968081
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  • 14. 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 19; 22(3):187-94. PubMed ID: 11559860
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  • 16. 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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  • 17. Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
    Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A.
    Hum Mutat; 1998 Sep 01; 12(3):212-3. PubMed ID: 10651485
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