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Journal Abstract Search

404 related items for PubMed ID: 32702353

  • 1. Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.
    Zou X, Fang S, Wu S, Li H, Sun Z, Zhu T, Wei X, Sui R.
    Exp Eye Res; 2020 Sep; 198():108147. PubMed ID: 32702353
    [Abstract] [Full Text] [Related]

  • 2. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
    Di Iorio V, Karali M, Melillo P, Testa F, Brunetti-Pierri R, Musacchia F, Condroyer C, Neidhardt J, Audo I, Zeitz C, Banfi S, Simonelli F.
    Invest Ophthalmol Vis Sci; 2020 Dec 01; 61(14):36. PubMed ID: 33372982
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM.
    Ophthalmology; 2017 Jul 01; 124(7):992-1003. PubMed ID: 28412069
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.
    Arch Ophthalmol; 2008 Mar 01; 126(3):379-84. PubMed ID: 18332319
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.
    Sheng X, Li Z, Zhang X, Wang J, Ren H, Sun Y, Meng R, Rong W, Zhuang W.
    Mol Vis; 2010 Aug 15; 16():1620-8. PubMed ID: 20806050
    [Abstract] [Full Text] [Related]

  • 9. CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF.
    Retina; 2019 Jun 15; 39(6):1186-1199. PubMed ID: 29528978
    [Abstract] [Full Text] [Related]

  • 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 15; 24(4):215-23. PubMed ID: 14566651
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 12. Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
    Tran M, Kolesnikova M, Kim AH, Kowal T, Ning K, Mahajan VB, Tsang SH, Sun Y.
    Ophthalmic Genet; 2023 Jun 20; 44(3):295-303. PubMed ID: 36017691
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 15. Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
    Marques JP, Pinheiro R, Carvalho AL, Raimundo M, Soares M, Melo P, Murta J, Saraiva J, Silva R.
    Graefes Arch Clin Exp Ophthalmol; 2023 Mar 10; 261(3):867-878. PubMed ID: 36050475
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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 10; 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 10; 48(3):1298-304. PubMed ID: 17325176
    [Abstract] [Full Text] [Related]

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