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Journal Abstract Search

145 related items for PubMed ID: 14566650

  • 21. 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; 207():77-86. PubMed ID: 31181178
    [Abstract] [Full Text] [Related]

  • 22. Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.
    Beaufrère L, Rieu S, Hache JC, Dumur V, Claustres M, Tuffery S.
    Curr Eye Res; 1998 Jul; 17(7):726-9. PubMed ID: 9678418
    [Abstract] [Full Text] [Related]

  • 23. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
    van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP.
    Hum Mutat; 1997 Jul; 9(2):110-7. PubMed ID: 9067750
    [Abstract] [Full Text] [Related]

  • 24. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
    Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM.
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 25. 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; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

  • 26. Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
    Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG.
    Arch Ophthalmol; 2005 Aug; 123(8):1146-9. PubMed ID: 16087855
    [No Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. Large gene deletion and changes in corneal endothelial cells in a family with choroideremia.
    Lee SY, Yu WK, Lin PK.
    Invest Ophthalmol Vis Sci; 2015 Feb 26; 56(3):1887-93. PubMed ID: 25722215
    [Abstract] [Full Text] [Related]

  • 30. 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 Feb 26; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 31. Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3.
    Mukkamala K, Gentile RC, Willner J, Tsang S.
    Ophthalmic Genet; 2010 Dec 26; 31(4):178-82. PubMed ID: 21067479
    [Abstract] [Full Text] [Related]

  • 32. 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 26; 102(10):1378-1386. PubMed ID: 29367200
    [Abstract] [Full Text] [Related]

  • 33. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct 26; 109(10):1862-70. PubMed ID: 12359607
    [Abstract] [Full Text] [Related]

  • 34. Phenotype variations within a choroideremia family lacking the entire CHM gene.
    Ponjavic V, Abrahamson M, Andréasson S, Van Bokhoven H, Cremers FP, Ehinger B, Fex G.
    Ophthalmic Genet; 1995 Dec 26; 16(4):143-50. PubMed ID: 8749050
    [Abstract] [Full Text] [Related]

  • 35. Visual Function and Central Retinal Structure in Choroideremia.
    Heon E, Alabduljalil T, McGuigan III DB, Cideciyan AV, Li S, Chen S, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2016 Jul 01; 57(9):OCT377-87. PubMed ID: 27409497
    [Abstract] [Full Text] [Related]

  • 36. CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.
    Perez-Cano HJ, Garnica-Hayashi RE, Zenteno JC.
    Am J Med Genet A; 2009 Oct 01; 149A(10):2134-40. PubMed ID: 19764077
    [Abstract] [Full Text] [Related]

  • 37. 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 Oct 01; 17():2564-9. PubMed ID: 22025891
    [Abstract] [Full Text] [Related]

  • 38.
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    [No Abstract] [Full Text] [Related]

  • 39. Microperimetry and OCT findings in female carriers of choroideremia.
    Thobani A, Anastasakis A, Fishman GA.
    Ophthalmic Genet; 2010 Dec 01; 31(4):235-9. PubMed ID: 21067487
    [Abstract] [Full Text] [Related]

  • 40. Mutation analysis in Canadian families with choroideremia.
    Nesslinger N, Mitchell G, Strasberg P, MacDonald IM.
    Ophthalmic Genet; 1996 Jun 01; 17(2):47-52. PubMed ID: 8832720
    [Abstract] [Full Text] [Related]

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