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Journal Abstract Search

368 related items for PubMed ID: 20393116

  • 1. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
    Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL.
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4771-80. PubMed ID: 20393116
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  • 6. Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
    Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E.
    Mol Vis; 2009 Aug 28; 15():1709-16. PubMed ID: 19718270
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  • 8. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
    Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Riazuddin S, Hejtmancik JF.
    Hum Genet; 2007 Nov 28; 122(3-4):293-9. PubMed ID: 17605048
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  • 16. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
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