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Journal Abstract Search

201 related items for PubMed ID: 30690895

  • 1. 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; 97(6):633-636. PubMed ID: 30690895
    [Abstract] [Full Text] [Related]

  • 2. 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]

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

  • 4. 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]

  • 5. CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.
    Pennesi ME, Birch DG, Duncan JL, Bennett J, Girach A.
    Retina; 2019 Nov 28; 39(11):2059-2069. PubMed ID: 31021898
    [Abstract] [Full Text] [Related]

  • 6. Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy.
    Martin-Gutierrez MP, Buckley TM, MacLaren RE.
    Eur J Ophthalmol; 2022 Jul 28; 32(4):NP30-NP33. PubMed ID: 33573424
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Novel CHM mutations identified in Chinese families with Choroideremia.
    Cai XB, Huang XF, Tong Y, Lu QK, Jin ZB.
    Sci Rep; 2016 Oct 14; 6():35360. PubMed ID: 27739455
    [Abstract] [Full Text] [Related]

  • 9. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS, Kim LA, Fawzi AA.
    Arch Ophthalmol; 2012 Sep 14; 130(9):1184-9. PubMed ID: 22965595
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 29(7):677-679. PubMed ID: 31253224
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 12. Clinical and Genetic Features of Choroideremia in Childhood.
    Khan KN, Islam F, Moore AT, Michaelides M.
    Ophthalmology; 2016 Oct 14; 123(10):2158-65. PubMed ID: 27506488
    [Abstract] [Full Text] [Related]

  • 13. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
    Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P.
    Genes (Basel); 2022 Jul 17; 13(7):. PubMed ID: 35886051
    [Abstract] [Full Text] [Related]

  • 14. Choroideremia: a review of general findings and pathogenesis.
    Coussa RG, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun 17; 33(2):57-65. PubMed ID: 22017263
    [Abstract] [Full Text] [Related]

  • 15. 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 Jun 17; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 16. Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
    Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M.
    Ann Biol Clin (Paris); 2015 Jun 17; 73(4):469-73. PubMed ID: 26411914
    [Abstract] [Full Text] [Related]

  • 17. Single-base substitutions in the CHM promoter as a cause of choroideremia.
    Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM.
    Hum Mutat; 2017 Jun 17; 38(6):704-715. PubMed ID: 28271586
    [Abstract] [Full Text] [Related]

  • 18. 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 17; 125(8):1107-13. PubMed ID: 17698759
    [Abstract] [Full Text] [Related]

  • 19. 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 17; 37(5):438-442. PubMed ID: 28643494
    [Abstract] [Full Text] [Related]

  • 20. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.
    Jones KD, Radziwon A, Birch DG, MacDonald IM.
    Ophthalmic Genet; 2020 Aug 17; 41(4):341-344. PubMed ID: 32441177
    [Abstract] [Full Text] [Related]

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