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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

286 related items for PubMed ID: 19853238

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  • 24. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
    Sodi A, Menchini F, Manitto MP, Passerini I, Murro V, Torricelli F, Menchini U.
    Mol Vis; 2011; 17():3078-87. PubMed ID: 22162627
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  • 27. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.
    Hum Mutat; 2013 Mar; 34(3):506-14. PubMed ID: 23281133
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  • 28. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
    Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH.
    Hum Mol Genet; 1998 Sep; 7(9):1517-25. PubMed ID: 9700209
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  • 29. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
    den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA.
    Nat Genet; 1999 Oct; 23(2):217-21. PubMed ID: 10508521
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  • 31. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Oct; 20():1594-604. PubMed ID: 25489231
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  • 34. Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
    Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF.
    Int J Mol Sci; 2020 Feb 26; 21(5):. PubMed ID: 32111077
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  • 37. Molecular evolution and functional divergence of the bestrophin protein family.
    Milenkovic VM, Langmann T, Schreiber R, Kunzelmann K, Weber BH.
    BMC Evol Biol; 2008 Feb 28; 8():72. PubMed ID: 18307799
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  • 38. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
    Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S, Abitbol M.
    Mol Vis; 2011 Jan 29; 17():309-22. PubMed ID: 21293734
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