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Journal Abstract Search

469 related items for PubMed ID: 25079116

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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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  • 4. A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
    Rocha-Sousa A, Hayashi T, Gomes NL, Penas S, Brandão E, Rocha P, Urashima M, Yamada H, Tsuneoka H, Falcão-Reis F.
    Graefes Arch Clin Exp Ophthalmol; 2011 Feb; 249(2):201-8. PubMed ID: 20725840
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  • 7. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
    Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP.
    Arch Ophthalmol; 2003 Sep; 121(9):1316-23. PubMed ID: 12963616
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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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  • 13. 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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  • 14. 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 03; 130(3):165-77. PubMed ID: 25663266
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  • 15. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 03; 118(5):888-94. PubMed ID: 21211845
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  • 16. Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis.
    Bazvand F, Khojasteh H, Zarei M.
    Doc Ophthalmol; 2019 Dec 03; 139(3):221-226. PubMed ID: 31292819
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  • 17. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    Ophthalmology; 2019 Nov 03; 126(11):1557-1566. PubMed ID: 31257036
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  • 18. Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome.
    Hayashi T, Gekka T, Tsuneoka H.
    Ophthalmic Surg Lasers Imaging Retina; 2016 Feb 03; 47(2):187-90. PubMed ID: 26878455
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  • 19. 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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  • 20. 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 03; 120(4):809-20. PubMed ID: 23290749
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