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Journal Abstract Search

362 related items for PubMed ID: 11527955

  • 1. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
    Wada Y, Abe T, Takeshita T, Sato H, Yanashima K, Tamai M.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2395-400. PubMed ID: 11527955
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  • 4. Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
    Wada Y, Tada A, Itabashi T, Kawamura M, Sato H, Tamai M.
    Am J Ophthalmol; 2005 Jul; 140(1):163-5. PubMed ID: 16038673
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  • 5. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
    Wada Y, Abe T, Fuse N, Tamai M.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1894-7. PubMed ID: 10845614
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  • 6. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
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  • 7. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
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  • 8. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556
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  • 9. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
    Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M.
    Am J Ophthalmol; 2005 Sep; 140(3):537-40. PubMed ID: 16139010
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  • 11. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E, Zdzieszyńska M, Goś R, Lewiński A.
    Klin Oczna; 2004 Sep; 106(6):743-8. PubMed ID: 15787173
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  • 14. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
    Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486
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  • 15. 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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  • 16. Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene.
    Wada Y, Itabashi T, Sato H, Tamai M.
    Graefes Arch Clin Exp Ophthalmol; 2004 Nov; 242(11):956-61. PubMed ID: 15085354
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  • 17. [Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
    Teng Y, Tian H, Wang H, Hu X, Chen Y, Yang Z, Wang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):164-6. PubMed ID: 12673590
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  • 19. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
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  • 20. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
    Wada Y, Nakazawa M, Abe T, Tamai M.
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):290-3. PubMed ID: 10634633
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