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Journal Abstract Search

277 related items for PubMed ID: 32970112

  • 1. 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. 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 01; 198():108147. PubMed ID: 32702353
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  • 7. 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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  • 8. A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.
    Fu J, Cheng J, Zhou Q, Wei C, Chen H, Lv H, Fu J.
    Biosci Rep; 2019 Oct 30; 39(10):. PubMed ID: 31652454
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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 30; 125(10):1407-12. PubMed ID: 17923551
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  • 11. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
    Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A.
    Eur J Hum Genet; 1999 Sep 30; 7(6):687-94. PubMed ID: 10482958
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  • 13. 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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  • 16. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
    Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA.
    Am J Ophthalmol; 2003 Oct 15; 136(4):678-87. PubMed ID: 14516808
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  • 17. 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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  • 18. 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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