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Journal Abstract Search

172 related items for PubMed ID: 36017691

  • 1. 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; 44(3):295-303. PubMed ID: 36017691
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. 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
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  • 4. 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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  • 6. 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 15; 35(1):73-9. PubMed ID: 20021257
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  • 7. 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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  • 9. 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 20; 73(5):1131-46. PubMed ID: 14564670
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  • 10. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
    Jin ZB, Gu F, Ma X, Nao-i N.
    Arch Ophthalmol; 2007 Oct 20; 125(10):1407-12. PubMed ID: 17923551
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  • 13. 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 20; 198():108147. PubMed ID: 32702353
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  • 14. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec 20; 105(12):2286-96. PubMed ID: 9855162
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  • 15. [Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].
    Li ZL, Zhuang WJ, Zhao W, Zhang XF, Wang J, Meng RH, Rong WN, Sheng XL.
    Zhonghua Yan Ke Za Zhi; 2011 Jun 20; 47(6):516-20. PubMed ID: 21914266
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  • 16. 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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  • 17. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
    Shifera AS, Kay CN.
    Ophthalmic Genet; 2015 Jun 01; 36(3):251-6. PubMed ID: 24428633
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  • 18. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
    Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.
    PLoS One; 2011 Jun 01; 6(8):e23021. PubMed ID: 21857984
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  • 20. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
    Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP.
    Br J Ophthalmol; 2015 Oct 01; 99(10):1360-5. PubMed ID: 25883087
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