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Journal Abstract Search

190 related items for PubMed ID: 27739455

  • 1. 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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  • 2. Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.
    Zhou Q, Liu L, Xu F, Li H, Sergeev Y, Dong F, Jiang R, MacDonald I, Sui R.
    Mol Vis; 2012 Oct 14; 18():309-16. PubMed ID: 22355242
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  • 6. Atypical choroideremia presenting with early-onset macular atrophy.
    Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM.
    Acta Ophthalmol; 2019 Sep 14; 97(6):633-636. PubMed ID: 30690895
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  • 8. 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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  • 14. 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 14; 41(4):341-344. PubMed ID: 32441177
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  • 15. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
    Hayakawa M, Fujiki K, Hotta Y, Ito R, Ohki J, Ono J, Saito A, Nakayasu K, Kanai A, Ishidoh K, Kominami E, Yoshida K, Kim KC, Ohashi H.
    Ophthalmic Genet; 1999 Jun 14; 20(2):107-15. PubMed ID: 10420196
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  • 16. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients.
    Zhou Q, Yao F, Han X, Li H, Yang L, Sui R.
    Exp Eye Res; 2017 Nov 14; 164():64-73. PubMed ID: 28774736
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  • 17. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS, Kim LA, Fawzi AA.
    Arch Ophthalmol; 2012 Sep 14; 130(9):1184-9. PubMed ID: 22965595
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  • 18. High-resolution images of retinal structure in patients with choroideremia.
    Syed R, Sundquist SM, Ratnam K, Zayit-Soudry S, Zhang Y, Crawford JB, MacDonald IM, Godara P, Rha J, Carroll J, Roorda A, Stepien KE, Duncan JL.
    Invest Ophthalmol Vis Sci; 2013 Feb 01; 54(2):950-61. PubMed ID: 23299470
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  • 19. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
    Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P.
    Genes (Basel); 2022 Jul 17; 13(7):. PubMed ID: 35886051
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