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Journal Abstract Search


231 related items for PubMed ID: 28643494

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  • 5. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
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  • 10. CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.
    Sengillo JD, Lee W, Bakhoum MF, Cho GY, Chiang JP, Tsang SH.
    Retin Cases Brief Rep; 2015 Jul 28; 12 Suppl 1(Suppl 1):S67-S71. PubMed ID: 29045269
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  • 14. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.
    Ophthalmology; 2006 Nov 28; 113(11):2066.e1-10. PubMed ID: 16935340
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  • 16. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov 28; 255(11):2099-2111. PubMed ID: 28752371
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  • 17. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun 28; 116(6):1201-9.e1-2. PubMed ID: 19376587
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  • 19. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
    Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C.
    PLoS One; 2016 Jun 28; 11(4):e0151943. PubMed ID: 27070432
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  • 20. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct 28; 111(10):1905-9. PubMed ID: 15465555
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