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Journal Abstract Search

239 related items for PubMed ID: 22965595

  • 1. 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]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. A Novel Mutation in the Choroideremia Gene in a Turkish Family.
    Iftikhar M, Wolfson Y, Sodhi S, Usmani B, Scholl HPN, Shah SMA.
    J Coll Physicians Surg Pak; 2019 Jul 28; 29(7):677-679. PubMed ID: 31253224
    [Abstract] [Full Text] [Related]

  • 8. 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 Jul 28; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 9. 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 Jul 28; 17():2564-9. PubMed ID: 22025891
    [Abstract] [Full Text] [Related]

  • 10. CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.
    Han X, Wu S, Li H, Zhu T, Wei X, Zhou Q, Sui R.
    Retina; 2020 Nov 28; 40(11):2240-2253. PubMed ID: 31922496
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Clinical and Genetic Features of Choroideremia in Childhood.
    Khan KN, Islam F, Moore AT, Michaelides M.
    Ophthalmology; 2016 Oct 01; 123(10):2158-65. PubMed ID: 27506488
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
    Gao FJ, Tian GH, Hu FY, Wang DD, Li JK, Chang Q, Chen F, Xu GZ, Liu W, Wu JH.
    BMC Ophthalmol; 2020 Jun 01; 20(1):212. PubMed ID: 32487042
    [Abstract] [Full Text] [Related]

  • 18. 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; 2020 Jun 01; 12 Suppl 1(Suppl 1):S67-S71. PubMed ID: 29045269
    [Abstract] [Full Text] [Related]

  • 19. 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 Jun 01; 242(4):195-207. PubMed ID: 31416074
    [Abstract] [Full Text] [Related]

  • 20. Clinical and Genetic Findings in Korean Patients with Choroideremia.
    Jo WG, Lee CS, Han J.
    Korean J Ophthalmol; 2023 Aug 01; 37(4):285-291. PubMed ID: 37336512
    [Abstract] [Full Text] [Related]

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