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Journal Abstract Search

232 related items for PubMed ID: 20021257

  • 1. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
    Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.
    Curr Eye Res; 2010 Jan; 35(1):73-9. PubMed ID: 20021257
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  • 7. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
    Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.
    Invest Ophthalmol Vis Sci; 2003 Apr; 44(4):1458-63. PubMed ID: 12657579
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  • 11. Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
    Jiang J, Wu X, Shen D, Dong L, Jiao X, Hejtmancik JF, Li N.
    Sci Rep; 2017 Mar 15; 7():44465. PubMed ID: 28294154
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  • 14. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
    García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2006 Sep 15; 47(9):3777-82. PubMed ID: 16936086
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  • 18. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H, Diez Montero C, Villanueva Gómez A, Lobo Valentin R, Montero-Moreno JA.
    Ophthalmic Genet; 2019 Apr 15; 40(2):170-176. PubMed ID: 31033374
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  • 19. Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
    Kuruvilla SE, Song E, Raoof N, van Bysterveldt K, Oliver VF, Hong SC, Al-Taie R, Wilson G, Vincent AL.
    Clin Exp Ophthalmol; 2023 Apr 15; 51(4):300-312. PubMed ID: 36882936
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  • 20. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
    Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.
    Am J Hum Genet; 2002 Jun 15; 70(6):1545-54. PubMed ID: 11992260
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