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Journal Abstract Search

173 related items for PubMed ID: 24891813

  • 1. 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; 20():724-31. PubMed ID: 24891813
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  • 2. 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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  • 3. 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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  • 4. 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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  • 6. 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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  • 13. Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
    Udar N, Small K, Chalukya M, Silva-Garcia R, Marmor M.
    Mol Vis; 2011 Feb 17; 17():519-25. PubMed ID: 21364904
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  • 15. Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
    Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2019 Jan 17; 257(1):9-22. PubMed ID: 30324420
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  • 19. Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant.
    Cehajic-Kapetanovic J, Cottriall CL, Jolly JK, Shanks M, Clouston P, Charbel Issa P, MacLaren RE.
    Ophthalmic Genet; 2019 Feb 17; 40(1):29-33. PubMed ID: 30466340
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