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Journal Abstract Search

195 related items for PubMed ID: 32835561

  • 1. 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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  • 3. 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; 127(7):907-12. PubMed ID: 19597113
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  • 5. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
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  • 7. 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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  • 8. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov 01; 255(11):2099-2111. PubMed ID: 28752371
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  • 15. Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
    Contestabile MT, Piane M, Cascone NC, Pasquale N, Ciarnella A, Recupero SM, Chessa L.
    Mol Vis; 2014 Nov 01; 20():325-33. PubMed ID: 24672218
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  • 16. Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa.
    Grover S, Alexander KR, Fishman GA, Ryan J.
    Ophthalmology; 2002 Jan 01; 109(1):159-63. PubMed ID: 11772598
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  • 18. Multimodal assessment of choroideremia patients defines pre-treatment characteristics.
    Seitz IP, Zhour A, Kohl S, Llavona P, Peter T, Wilhelm B, Zrenner E, Ueffing M, Bartz-Schmidt KU, Fischer MD.
    Graefes Arch Clin Exp Ophthalmol; 2015 Dec 01; 253(12):2143-50. PubMed ID: 25744334
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  • 19. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
    Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q.
    Int J Mol Med; 2014 Aug 01; 34(2):573-7. PubMed ID: 24913019
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  • 20. 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 01; 102(10):1378-1386. PubMed ID: 29367200
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