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Journal Abstract Search

724 related items for PubMed ID: 15665353

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  • 5. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
    Reinis A, Golovleva I, Köhn L, Sandgren O.
    Acta Ophthalmol; 2013 May; 91(3):259-66. PubMed ID: 22405330
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  • 7. Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system.
    Kondo M, Miyake Y, Kondo N, Ueno S, Takakuwa H, Terasaki H.
    Ophthalmology; 2004 Apr; 111(4):732-9. PubMed ID: 15051206
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  • 8. 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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  • 10. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):70-9. PubMed ID: 20702822
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  • 15. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct 05; 109(10):1862-70. PubMed ID: 12359607
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  • 16. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 05; 35(3):130-7. PubMed ID: 23767994
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  • 18. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr 05; 120(4):809-20. PubMed ID: 23290749
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  • 20. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb 05; 49(2):751-7. PubMed ID: 18235024
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