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PUBMED FOR HANDHELDS

Journal Abstract Search


560 related items for PubMed ID: 18436841

  • 1. Phenotypic variation in enhanced S-cone syndrome.
    Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE.
    Invest Ophthalmol Vis Sci; 2008 May; 49(5):2082-93. PubMed ID: 18436841
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  • 7. Clinical and molecular characterization of enhanced S-cone syndrome in children.
    Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT.
    JAMA Ophthalmol; 2014 Nov; 132(11):1341-9. PubMed ID: 25079116
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  • 8. Phenotypic features of patients with NR2E3 mutations.
    Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA.
    Arch Ophthalmol; 2009 Jan; 127(1):71-5. PubMed ID: 19139342
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  • 10. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
    Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC.
    Nat Genet; 2000 Feb; 24(2):127-31. PubMed ID: 10655056
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  • 13. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
    Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A.
    Hum Mutat; 2004 Nov; 24(5):439. PubMed ID: 15459973
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  • 15. A phenotype-genotype correlation study of X-linked retinoschisis.
    Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE.
    Ophthalmology; 2013 Jul; 120(7):1454-64. PubMed ID: 23453514
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  • 16. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
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  • 20. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
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