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Journal Abstract Search

162 related items for PubMed ID: 31253224

  • 1.
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  • 2. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS, Kim LA, Fawzi AA.
    Arch Ophthalmol; 2012 Sep; 130(9):1184-9. PubMed ID: 22965595
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  • 3. CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.
    Sengillo JD, Lee W, Bakhoum MF, Cho GY, Chiang JP, Tsang SH.
    Retin Cases Brief Rep; 2012 Sep; 12 Suppl 1(Suppl 1):S67-S71. PubMed ID: 29045269
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  • 4. 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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  • 6. Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.
    Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y.
    Mol Vis; 2011 Sep; 17():2564-9. PubMed ID: 22025891
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  • 8. 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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  • 9. 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 28; 97(6):633-636. PubMed ID: 30690895
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  • 11. 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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  • 12. 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 01; 41(6):625-628. PubMed ID: 32835561
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  • 14. 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 01; 52(4):289-297. PubMed ID: 18773267
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  • 15. Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.
    Mucciolo DP, Murro V, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S.
    Ophthalmologica; 2019 Dec 01; 242(4):195-207. PubMed ID: 31416074
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  • 16. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
    Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR.
    Orphanet J Rare Dis; 2018 Dec 12; 13(1):221. PubMed ID: 30541579
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  • 17. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.
    Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A.
    Arch Ophthalmol; 2007 Aug 12; 125(8):1107-13. PubMed ID: 17698759
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  • 18. Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene.
    Itabashi T, Wada Y, Kawamura M, Sato H, Tamai M.
    Retina; 2004 Dec 12; 24(6):940-5. PubMed ID: 15579993
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  • 19. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
    Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L.
    Mol Med Rep; 2018 Jun 12; 17(6):7918-7924. PubMed ID: 29620233
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  • 20. 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 12; 253(12):2143-50. PubMed ID: 25744334
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