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Journal Abstract Search

279 related items for PubMed ID: 27522502

  • 1. 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; 60(6):476-485. PubMed ID: 27522502
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  • 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. 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 01; 121(9):1316-23. PubMed ID: 12963616
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  • 7. 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 01; 127(1):71-5. PubMed ID: 19139342
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  • 8. 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 01; 36(6):599-610. PubMed ID: 25703721
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  • 11. Expanded clinical spectrum of enhanced S-cone syndrome.
    Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA.
    JAMA Ophthalmol; 2013 Oct 01; 131(10):1324-30. PubMed ID: 23989059
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  • 14. A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
    Manayath GJ, Namburi P, Periasamy S, Kale JA, Narendran V, Ganesh A.
    Mol Vis; 2014 Oct 01; 20():724-31. PubMed ID: 24891813
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  • 15. Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome.
    Hayashi T, Gekka T, Tsuneoka H.
    Ophthalmic Surg Lasers Imaging Retina; 2016 Feb 01; 47(2):187-90. PubMed ID: 26878455
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  • 16. Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
    Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2018 Jul 02; 59(8):3209-3219. PubMed ID: 29971438
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  • 19. Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials.
    Roman AJ, Powers CA, Semenov EP, Sheplock R, Aksianiuk V, Russell RC, Sumaroka A, Garafalo AV, Cideciyan AV, Jacobson SG.
    Int J Mol Sci; 2019 May 21; 20(10):. PubMed ID: 31117170
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