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171 related items for PubMed ID: 21897746

  • 1. Enhanced S-cone function with preserved rod function: a new clinical phenotype.
    Kinori M, Pras E, Kolker A, Ferman-Attar G, Moroz I, Moisseiev J, Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Sharon D, Rotenstreich Y.
    Mol Vis; 2011; 17():2241-7. PubMed ID: 21897746
    [Abstract] [Full Text] [Related]

  • 2. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
    Newman H, Blumen SC, Braverman I, Hanna R, Tiosano B, Perlman I, Ben-Yosef T.
    Invest Ophthalmol Vis Sci; 2016 Oct 01; 57(13):5361-5371. PubMed ID: 27732723
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  • 5. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.
    Sustar M, Perovšek D, Cima I, Stirn-Kranjc B, Hawlina M, Brecelj J.
    Doc Ophthalmol; 2015 Jun 01; 130(3):165-77. PubMed ID: 25663266
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  • 6. 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 01; 49(5):2082-93. PubMed ID: 18436841
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  • 8. Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.
    Minnella AM, Pagliei V, Savastano MC, Federici M, Bertelli M, Maltese PE, Placidi G, Corbo G, Falsini B, Caporossi A.
    J Med Case Rep; 2018 Oct 03; 12(1):287. PubMed ID: 30285900
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  • 10. Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
    Cima I, Brecelj J, Sustar M, Coppieters F, Leroy BP, De Baere E, Hawlina M.
    Doc Ophthalmol; 2012 Oct 03; 125(2):161-8. PubMed ID: 22711506
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  • 11. Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
    von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P.
    Hum Mutat; 2015 Jun 03; 36(6):599-610. PubMed ID: 25703721
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  • 12. 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 03; 35(3):130-7. PubMed ID: 23767994
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  • 14. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
    Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y.
    Jpn J Ophthalmol; 2016 Nov 03; 60(6):476-485. PubMed ID: 27522502
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  • 15. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 03; 120(6):1239-46. PubMed ID: 23499059
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  • 16. 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 03; 132(11):1341-9. PubMed ID: 25079116
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  • 17. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
    Khan NW, Wissinger B, Kohl S, Sieving PA.
    Invest Ophthalmol Vis Sci; 2007 Aug 03; 48(8):3864-71. PubMed ID: 17652762
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  • 18. 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 03; 24(5):439. PubMed ID: 15459973
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  • 19. 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 03; 109(10):1862-70. PubMed ID: 12359607
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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 03; 49(2):751-7. PubMed ID: 18235024
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