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Journal Abstract Search

202 related items for PubMed ID: 19139342

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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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  • 5. 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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  • 6. 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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  • 7. 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 Nov; 34(1-2):105-8. PubMed ID: 23039133
    [Abstract] [Full Text] [Related]

  • 8. The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
    Bandah D, Merin S, Ashhab M, Banin E, Sharon D.
    Arch Ophthalmol; 2009 Mar; 127(3):297-302. PubMed ID: 19273793
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 11. Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
    Lam BL, Goldberg JL, Hartley KL, Stone EM, Liu M.
    Am J Ophthalmol; 2007 Jul; 144(1):157-9. PubMed ID: 17601449
    [Abstract] [Full Text] [Related]

  • 12. 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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  • 14. 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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  • 20. Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
    Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K.
    Acta Ophthalmol Scand; 2004 Oct 01; 82(5):616-22. PubMed ID: 15453866
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