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Journal Abstract Search

145 related items for PubMed ID: 14566650

  • 1. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.
    Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B.
    Ophthalmic Genet; 2003 Dec; 24(4):203-14. PubMed ID: 14566650
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  • 2. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.
    Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
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  • 3. 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; 20(2):107-15. PubMed ID: 10420196
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  • 4. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun; 116(6):1201-9.e1-2. PubMed ID: 19376587
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  • 5. 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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  • 6. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555
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  • 8. 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; 24(6):940-5. PubMed ID: 15579993
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  • 9. 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; 52(4):289-297. PubMed ID: 18773267
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  • 10. 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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  • 12. 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 28; 64(12):924-929. PubMed ID: 28112135
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  • 13. 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 28; 125(8):1107-13. PubMed ID: 17698759
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  • 14. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep 28; 105(9):1637-40. PubMed ID: 9754170
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  • 17. Choroideremia carriers maintain a normal electro-oculogram (EOG).
    Yau RJ, Sereda CA, McTaggart KE, Sauvé Y, MacDonald IM.
    Doc Ophthalmol; 2007 May 28; 114(3):147-51. PubMed ID: 17333094
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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. 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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  • 20. Detection of localized retinal dysfunction in a choroideremia carrier.
    Cheung MC, Nune GC, Wang M, McTaggart KE, MacDonald IM, Duncan JL.
    Am J Ophthalmol; 2004 Jan 01; 137(1):189-91. PubMed ID: 14700671
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