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Journal Abstract Search

168 related items for PubMed ID: 21364904

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  • 4. 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
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  • 5. 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
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  • 6. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
    Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC.
    Nat Genet; 2000 Feb; 24(2):127-31. PubMed ID: 10655056
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  • 7. 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 Feb; 20():724-31. PubMed ID: 24891813
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  • 8. 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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  • 9. 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. Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish.
    Xie S, Han S, Qu Z, Liu F, Li J, Yu S, Reilly J, Tu J, Liu X, Lu Z, Hu X, Yimer TA, Qin Y, Huang Y, Lv Y, Jiang T, Shu X, Tang Z, Jia H, Wong F, Liu M.
    Biochim Biophys Acta Mol Basis Dis; 2019 Jun 01; 1865(6):1273-1283. PubMed ID: 30684641
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  • 12. Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
    Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ.
    Doc Ophthalmol; 2016 Jun 01; 132(3):157-66. PubMed ID: 27033713
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  • 13. 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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  • 14. 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 02; 40(1):29-33. PubMed ID: 30466340
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  • 15. Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
    Toms M, Ward N, Moosajee M.
    Genes (Basel); 2023 Jun 23; 14(7):. PubMed ID: 37510230
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  • 16. 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 23; 144(1):157-9. PubMed ID: 17601449
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  • 17. Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.
    Gurskytė V, Kozlovskaja I, Makouskaja A, Misevičė A.
    J AAPOS; 2023 Dec 23; 27(6):363-366. PubMed ID: 37806489
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  • 18. Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.
    Cideciyan AV, Jacobson SG, Gupta N, Osawa S, Locke KG, Weiss ER, Wright AF, Birch DG, Milam AH.
    Invest Ophthalmol Vis Sci; 2003 Mar 23; 44(3):1268-74. PubMed ID: 12601058
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  • 20. Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.
    Bohrer LR, Wiley LA, Burnight ER, Cooke JA, Giacalone JC, Anfinson KR, Andorf JL, Mullins RF, Stone EM, Tucker BA.
    Genes (Basel); 2019 Apr 05; 10(4):. PubMed ID: 30959774
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