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Journal Abstract Search

227 related items for PubMed ID: 10094550

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  • 6. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
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  • 7. 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; 12(3):212-3. PubMed ID: 10651485
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  • 13. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
    Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A.
    Hum Mutat; 2001 Aug; 18(2):109-19. PubMed ID: 11462235
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  • 14. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y, Dong B, Hu AL, Cui TT, Zheng YY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276
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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; 115(11):1429-35. PubMed ID: 9366675
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  • 16. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
    Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W.
    Hum Genet; 2001 Sep; 109(3):271-8. PubMed ID: 11702207
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  • 19. A NlaIII PCR/RFLP in an intron of the retinitis pigmentosa GTPase regulator gene (RPGR) on the canine X chromosome.
    Zhou T, Shibuya H, Liu PC, O'Brien DP, Johnson GS.
    Anim Genet; 1998 Aug; 29(4):330-1. PubMed ID: 9745684
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  • 20. Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Jin L, Liu M, Wei Y, Wu X, Liu Y, Wang H, Chu R, Chai J.
    Hum Mutat; 2000 Jun; 15(6):584. PubMed ID: 10862103
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