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Journal Abstract Search

405 related items for PubMed ID: 32702353

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  • 3. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
    Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE.
    JAMA Ophthalmol; 2020 Nov 01; 138(11):1151-1158. PubMed ID: 32970112
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  • 5. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
    Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.
    Am J Hum Genet; 2003 Nov 01; 73(5):1131-46. PubMed ID: 14564670
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  • 7. RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
    Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF.
    Int J Mol Sci; 2020 Jan 28; 21(3):. PubMed ID: 32012938
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  • 10. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
    Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.
    Ophthalmic Genet; 2003 Dec 28; 24(4):215-23. PubMed ID: 14566651
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  • 11. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
    Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E.
    Sci Rep; 2016 Dec 20; 6():39179. PubMed ID: 27995965
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  • 13. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
    Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E.
    Eur J Ophthalmol; 2017 Mar 10; 27(2):240-248. PubMed ID: 27768226
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  • 14. X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
    Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW, Heckenlively JR, Jayasundera KT, Branham KH, Andrews CA, Othman MI, Karoukis AJ, Birch DG, Daiger SP.
    Ophthalmol Retina; 2020 May 10; 4(5):510-520. PubMed ID: 31953110
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  • 16. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
    Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.
    Mol Vis; 2006 Oct 06; 12():1167-74. PubMed ID: 17093403
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  • 18. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep 06; 38(10):1983-97. PubMed ID: 9331262
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  • 20. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 2007 Mar 06; 48(3):1298-304. PubMed ID: 17325176
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