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Journal Abstract Search

227 related items for PubMed ID: 33138239

  • 1. Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
    Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston P, Downes SM.
    Genes (Basel); 2020 Oct 29; 11(11):. PubMed ID: 33138239
    [Abstract] [Full Text] [Related]

  • 2. 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 29; 121(9):1316-23. PubMed ID: 12963616
    [Abstract] [Full Text] [Related]

  • 3. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
    Schorderet DF, Escher P.
    Hum Mutat; 2009 Nov 29; 30(11):1475-85. PubMed ID: 19718767
    [Abstract] [Full Text] [Related]

  • 4. 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 29; 60(6):476-485. PubMed ID: 27522502
    [Abstract] [Full Text] [Related]

  • 5. 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 29; 257(1):9-22. PubMed ID: 30324420
    [Abstract] [Full Text] [Related]

  • 6. 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 29; 132(11):1341-9. PubMed ID: 25079116
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 126(11):1557-1566. PubMed ID: 31257036
    [Abstract] [Full Text] [Related]

  • 8. 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 29; 127(1):71-5. PubMed ID: 19139342
    [Abstract] [Full Text] [Related]

  • 9. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.
    Am J Ophthalmol; 2018 Jun 29; 190():58-68. PubMed ID: 29559409
    [Abstract] [Full Text] [Related]

  • 10. 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 Jun 29; 34(1-2):105-8. PubMed ID: 23039133
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 Jul 02; 20():724-31. PubMed ID: 24891813
    [Abstract] [Full Text] [Related]

  • 13. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
    Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A.
    Invest Ophthalmol Vis Sci; 2020 Aug 03; 61(10):36. PubMed ID: 32881472
    [Abstract] [Full Text] [Related]

  • 14. Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.
    Aísa-Marín I, López-Iniesta MJ, Milla S, Lillo J, Navarro G, de la Villa P, Marfany G.
    Neurobiol Dis; 2020 Dec 03; 146():105122. PubMed ID: 33007388
    [Abstract] [Full Text] [Related]

  • 15. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Dec 03; 26():423-433. PubMed ID: 32565670
    [Abstract] [Full Text] [Related]

  • 16. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R.
    Retina; 2019 Oct 03; 39(10):2040-2052. PubMed ID: 30134391
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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 03; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 19. Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
    Blanco-Kelly F, García Hoyos M, Lopez Martinez MA, Lopez-Molina MI, Riveiro-Alvarez R, Fernandez-San Jose P, Avila-Fernandez A, Corton M, Millan JM, García Sandoval B, Ayuso C.
    PLoS One; 2016 Dec 03; 11(2):e0149473. PubMed ID: 26910043
    [Abstract] [Full Text] [Related]

  • 20. Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease.
    Cruz NM, Yuan Y, Leehy BD, Baid R, Kompella U, DeAngelis MM, Escher P, Haider NB.
    PLoS One; 2014 Dec 03; 9(1):e87942. PubMed ID: 24498227
    [Abstract] [Full Text] [Related]

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