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Journal Abstract Search

197 related items for PubMed ID: 10420196

  • 21.
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  • 22. The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
    Simunovic MP, Jolly JK, Xue K, Edwards TL, Groppe M, Downes SM, MacLaren RE.
    Invest Ophthalmol Vis Sci; 2016 Nov 01; 57(14):6033-6039. PubMed ID: 27820636
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  • 23. New type of mutations in three spanish families with choroideremia.
    Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2008 Apr 01; 49(4):1315-21. PubMed ID: 18385043
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  • 25. Copy number variant analysis in CHM to detect duplications underlying choroideremia.
    Chi JY, MacDonald IM, Hume S.
    Ophthalmic Genet; 2013 Dec 01; 34(4):229-33. PubMed ID: 23273018
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  • 26. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
    Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U.
    Arch Ophthalmol; 2009 Jul 01; 127(7):907-12. PubMed ID: 19597113
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  • 28. Clinical diagnoses that overlap with choroideremia.
    Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM.
    Can J Ophthalmol; 2003 Aug 01; 38(5):364-72; quiz 372. PubMed ID: 12956277
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  • 29. 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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  • 30. Choroideremia: a review of general findings and pathogenesis.
    Coussa RG, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun 14; 33(2):57-65. PubMed ID: 22017263
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  • 34. The functional effect of pathogenic mutations in Rab escort protein 1.
    Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM.
    Mutat Res; 2009 Jun 01; 665(1-2):44-50. PubMed ID: 19427510
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  • 35. Mutational analysis of patients with the diagnosis of choroideremia.
    McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM.
    Hum Mutat; 2002 Sep 01; 20(3):189-96. PubMed ID: 12203991
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  • 36.
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  • 37. 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 01; 41(4):341-344. PubMed ID: 32441177
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  • 40. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS, Kim LA, Fawzi AA.
    Arch Ophthalmol; 2012 Sep 01; 130(9):1184-9. PubMed ID: 22965595
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