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Journal Abstract Search


311 related items for PubMed ID: 17698759

  • 1. 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; 125(8):1107-13. PubMed ID: 17698759
    [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. 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
    [Abstract] [Full Text] [Related]

  • 4. THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA.
    Dimopoulos IS, Freund PR, Knowles JA, MacDonald IM.
    Retina; 2018 Sep; 38(9):1731-1742. PubMed ID: 28800019
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Choroideremia carriers maintain a normal electro-oculogram (EOG).
    Yau RJ, Sereda CA, McTaggart KE, Sauvé Y, MacDonald IM.
    Doc Ophthalmol; 2007 May; 114(3):147-51. PubMed ID: 17333094
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. 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 Feb 01; 52(4):289-297. PubMed ID: 18773267
    [Abstract] [Full Text] [Related]

  • 13. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS, Kim LA, Fawzi AA.
    Arch Ophthalmol; 2012 Sep 01; 130(9):1184-9. PubMed ID: 22965595
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 24(6):940-5. PubMed ID: 15579993
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 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 01; 73(4):469-73. PubMed ID: 26411914
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 18. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.
    Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH.
    Ophthalmology; 2001 Apr 01; 108(4):711-20. PubMed ID: 11297488
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 24(4):203-14. PubMed ID: 14566650
    [Abstract] [Full Text] [Related]

  • 20. Two-Year Results After AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience.
    Dimopoulos IS, Hoang SC, Radziwon A, Binczyk NM, Seabra MC, MacLaren RE, Somani R, Tennant MTS, MacDonald IM.
    Am J Ophthalmol; 2018 Sep 01; 193():130-142. PubMed ID: 29940166
    [Abstract] [Full Text] [Related]


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