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Journal Abstract Search

143 related items for PubMed ID: 17251446

  • 1. The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.
    Zhang Q, Li S, Xiao X, Jia X, Guo X.
    Invest Ophthalmol Vis Sci; 2007 Feb; 48(2):530-3. PubMed ID: 17251446
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  • 4. 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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  • 5. 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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  • 7. Targeted disruption of FSCN2 gene induces retinopathy in mice.
    Yokokura S, Wada Y, Nakai S, Sato H, Yao R, Yamanaka H, Ito S, Sagara Y, Takahashi M, Nakamura Y, Tamai M, Noda T.
    Invest Ophthalmol Vis Sci; 2005 Aug; 46(8):2905-15. PubMed ID: 16043865
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  • 13. Null Mutation of the Fascin2 Gene by TALEN Leading to Progressive Hearing Loss and Retinal Degeneration in C57BL/6J Mice.
    Liu X, Zhao M, Xie Y, Li P, Wang O, Zhou B, Yang L, Nie Y, Cheng L, Song X, Jin C, Han F.
    G3 (Bethesda); 2018 Oct 03; 8(10):3221-3230. PubMed ID: 30082328
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  • 17. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.
    PLoS One; 2015 Oct 03; 10(7):e0131679. PubMed ID: 26147992
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  • 20. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov 03; 34(11):1537-1546. PubMed ID: 23946133
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