These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

248 related items for PubMed ID: 17333094

  • 1. 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]

  • 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. 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]

  • 5. 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]

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

  • 7. 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]

  • 8. 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 28; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
    van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP.
    Hum Genet; 2003 Aug 28; 113(3):268-75. PubMed ID: 12827496
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 12. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct 28; 111(10):1905-9. PubMed ID: 15465555
    [Abstract] [Full Text] [Related]

  • 13. 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 28; 24(6):940-5. PubMed ID: 15579993
    [Abstract] [Full Text] [Related]

  • 14. 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 Dec 28; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Genetic analysis of choroideremia families in the Australian population.
    McLaren TL, De Roach JN, Montgomery H, Hoffmann L, Kap C, Lamey TM.
    Clin Exp Ophthalmol; 2015 Nov 28; 43(8):727-34. PubMed ID: 25912515
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 108(4):711-20. PubMed ID: 11297488
    [Abstract] [Full Text] [Related]

  • 18. 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 Apr 28; 20():325-33. PubMed ID: 24672218
    [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 28; 24(4):203-14. PubMed ID: 14566650
    [Abstract] [Full Text] [Related]

  • 20. 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 28; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.