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Journal Abstract Search

207 related items for PubMed ID: 23263253

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  • 2. Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
    Cassiman C, Spileers W, De Baere E, de Ravel T, Casteels I.
    Ophthalmic Genet; 2013; 34(1-2):105-8. PubMed ID: 23039133
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  • 6. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.
    Am J Ophthalmol; 2008 Jun; 145(6):1099-106. PubMed ID: 18400204
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  • 10. Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
    Park SP, Hong IH, Tsang SH, Lee W, Horowitz J, Yzer S, Allikmets R, Chang S.
    Graefes Arch Clin Exp Ophthalmol; 2013 Oct; 251(10):2299-309. PubMed ID: 23604511
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  • 11. 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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  • 12. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
    Schorderet DF, Escher P.
    Hum Mutat; 2009 Nov 03; 30(11):1475-85. PubMed ID: 19718767
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  • 13. 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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  • 17. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
    Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.
    Ophthalmology; 2013 Nov 03; 120(11):2338-43. PubMed ID: 23725738
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  • 18. Syndromic retinitis pigmentosa: ERG and phenotypic changes.
    Fleischhauer J, Njoh WA, Niemeyer G.
    Klin Monbl Augenheilkd; 2005 Mar 03; 222(3):186-90. PubMed ID: 15785977
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  • 19. 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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