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Journal Abstract Search

175 related items for PubMed ID: 24672218

  • 21. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.
    Ortiz-Ramirez GY, Villanueva-Mendoza C, Zenteno Ruiz JC, Reyes M, Cortés-González V.
    Ophthalmic Genet; 2020 Dec; 41(6):625-628. PubMed ID: 32835561
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  • 22. A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
    Iino Y, Fujimaki T, Fujiki K, Murakami A.
    Jpn J Ophthalmol; 2008 Dec; 52(4):289-297. PubMed ID: 18773267
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  • 23. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
    de Castro-Miró M, Tonda R, Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R.
    Br J Ophthalmol; 2018 Oct; 102(10):1378-1386. PubMed ID: 29367200
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  • 24. Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
    Bae K, Song JS, Lee C, Kim NKD, Park WY, Kim BJ, Ki CS, Kim SJ.
    Ann Lab Med; 2017 Sep; 37(5):438-442. PubMed ID: 28643494
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  • 25. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.
    Jones KD, Radziwon A, Birch DG, MacDonald IM.
    Ophthalmic Genet; 2020 Aug; 41(4):341-344. PubMed ID: 32441177
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  • 32. Novel CHM mutations identified in Chinese families with Choroideremia.
    Cai XB, Huang XF, Tong Y, Lu QK, Jin ZB.
    Sci Rep; 2016 Oct 14; 6():35360. PubMed ID: 27739455
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  • 36. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
    van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP.
    Hum Genet; 2003 Aug 14; 113(3):268-75. PubMed ID: 12827496
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  • 37. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
    Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.
    Invest Ophthalmol Vis Sci; 2009 Jun 14; 50(6):3009-16. PubMed ID: 19117920
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  • 38. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
    Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.
    Hum Mutat; 2011 Dec 14; 32(12):1460-9. PubMed ID: 21905166
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  • 39. Genetic analysis of choroideremia families in the Australian population.
    McLaren TL, De Roach JN, Montgomery H, Hoffmann L, Kap C, Lamey TM.
    Clin Exp Ophthalmol; 2015 Nov 14; 43(8):727-34. PubMed ID: 25912515
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