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PUBMED FOR HANDHELDS

Journal Abstract Search


493 related items for PubMed ID: 11095629

  • 41.
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  • 42. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
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  • 47. Genotype-phenotype correlation of mouse pde6b mutations.
    Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH.
    Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3443-50. PubMed ID: 16123450
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  • 50. Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
    Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.
    Ophthalmic Genet; 2008 Sep; 29(3):139-44. PubMed ID: 18766995
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  • 51. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2011 May 09; 52(6):3032-8. PubMed ID: 21310915
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  • 52. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
    Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA.
    J Med Genet; 2005 Nov 09; 42(11):e67. PubMed ID: 16272259
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  • 53. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec 09; 48(12):5653-61. PubMed ID: 18055816
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  • 54. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
    Roman AJ, Boye SL, Aleman TS, Pang JJ, McDowell JH, Boye SE, Cideciyan AV, Jacobson SG, Hauswirth WW.
    Mol Vis; 2007 Sep 18; 13():1701-10. PubMed ID: 17960108
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  • 56. Mutations in the Norrie disease gene.
    Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB.
    Hum Mutat; 1995 Sep 18; 5(4):285-92. PubMed ID: 7627181
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  • 59. Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
    Chen Y, Moiseyev G, Takahashi Y, Ma JX.
    FEBS Lett; 2006 Jul 24; 580(17):4200-4. PubMed ID: 16828753
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