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Journal Abstract Search

357 related items for PubMed ID: 31775781

  • 21. 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; 126(3):379-84. PubMed ID: 18332319
    [Abstract] [Full Text] [Related]

  • 22. 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; 73(5):1131-46. PubMed ID: 14564670
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  • 23. A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.
    Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D.
    Am J Med Genet A; 2007 Jun 01; 143A(11):1150-8. PubMed ID: 17480003
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  • 24. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
    Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Genet; 1999 Jun 01; 105(1-2):57-62. PubMed ID: 10480356
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  • 25. X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
    Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y.
    Int J Mol Sci; 2019 Mar 26; 20(6):. PubMed ID: 30917587
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  • 26. RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
    Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.
    Br J Ophthalmol; 2009 Sep 26; 93(9):1151-4. PubMed ID: 19429592
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  • 28. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
    Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.
    Hum Mutat; 2007 Jan 26; 28(1):81-91. PubMed ID: 16969763
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  • 31. 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 Jan 26; 51(4):300-312. PubMed ID: 36882936
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  • 32. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
    Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A.
    Invest Ophthalmol Vis Sci; 2012 Dec 13; 53(13):8232-7. PubMed ID: 23150612
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  • 33. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
    Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2000 Aug 13; 41(9):2712-21. PubMed ID: 10937588
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  • 34. A novel missense mutation of RPGR identified from retinitis pigmentosa affects splicing of the ORF15 region and causes loss of transcript heterogeneity.
    Liu YS, Pan JQ, Wan JF, Ren CY, Xu ZH, Pan XB, Gao RN, Liu SQ, Zhang JL, Yao QH, Wang JH, Li EM, Rao JH, Hou P, Chen JH.
    Biochem Biophys Res Commun; 2020 Oct 15; 531(2):172-179. PubMed ID: 32788070
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  • 36. Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.
    Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.
    Ophthalmic Genet; 2001 Sep 15; 22(3):187-94. PubMed ID: 11559860
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  • 39. Clinical and molecular findings in children with retinitis pigmentosa.
    Li C, Zhang C, Bai D, Cui Y.
    Ophthalmic Genet; 2024 Oct 15; 45(5):441-451. PubMed ID: 39206744
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