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Journal Abstract Search

668 related items for PubMed ID: 28752371

  • 1. 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; 255(11):2099-2111. PubMed ID: 28752371
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  • 2. Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
    Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2019 Jan; 257(1):9-22. PubMed ID: 30324420
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  • 11. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
    de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF.
    Ophthalmology; 2013 Dec; 120(12):2684-2696. PubMed ID: 23806424
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  • 12. 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 Dec; 20():325-33. PubMed ID: 24672218
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  • 13. Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
    Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Bacci G, Bargiacchi S, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2019 Dec; 257(12):2655-2663. PubMed ID: 31654189
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  • 15. 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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  • 16. 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 01; 125(8):1107-13. PubMed ID: 17698759
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  • 17. Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.
    Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH.
    Am J Ophthalmol; 2019 Nov 01; 207():77-86. PubMed ID: 31181178
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  • 18. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct 01; 111(10):1905-9. PubMed ID: 15465555
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  • 19. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
    Battu R, Jeyabalan N, Murthy P, Reddy KS, Schouten JS, Webers CA.
    Indian J Ophthalmol; 2016 Dec 01; 64(12):924-929. PubMed ID: 28112135
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  • 20. 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 01; 97(6):633-636. PubMed ID: 30690895
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