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Journal Abstract Search

57 related items for PubMed ID: 10980543

  • 1.
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  • 2. 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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  • 4. 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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  • 5. 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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  • 6. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
    Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.
    Invest Ophthalmol Vis Sci; 2009 Nov; 50(11):5107-14. PubMed ID: 19516003
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  • 7. 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; 115(6):833-6. PubMed ID: 12123547
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  • 8. 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; 17(2):151. PubMed ID: 11180598
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  • 10. 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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  • 11. Novel frameshift mutations in the RP2 gene and polymorphic variants.
    Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Mutat; 2000 Jun; 15(6):580. PubMed ID: 10862093
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  • 12. Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs.
    Jin ZB, Mandai M, Homma K, Ishigami C, Hirami Y, Nao-I N, Takahashi M.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):3799-805. PubMed ID: 18450588
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  • 15. 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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  • 16. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 17. Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.
    Hiraoka M, Trese MT, Shastry BS.
    J Hum Genet; 2001 Nov 17; 46(4):241-3. PubMed ID: 11322665
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