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

200 related items for PubMed ID: 26411914

  • 1. 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; 73(4):469-73. PubMed ID: 26411914
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 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 28; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 6. Choroideremia: a review of general findings and pathogenesis.
    Coussa RG, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun 28; 33(2):57-65. PubMed ID: 22017263
    [Abstract] [Full Text] [Related]

  • 7. 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 28; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

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

  • 9. 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]

  • 10. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
    Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR.
    Orphanet J Rare Dis; 2018 Dec 12; 13(1):221. PubMed ID: 30541579
    [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 12; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 12. 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 12; 37(5):438-442. PubMed ID: 28643494
    [Abstract] [Full Text] [Related]

  • 13. 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 12; 127(7):907-12. PubMed ID: 19597113
    [Abstract] [Full Text] [Related]

  • 14. 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; 2009 Jul 12; 12 Suppl 1(Suppl 1):S67-S71. PubMed ID: 29045269
    [Abstract] [Full Text] [Related]

  • 15. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
    Hayakawa M, Fujiki K, Hotta Y, Ito R, Ohki J, Ono J, Saito A, Nakayasu K, Kanai A, Ishidoh K, Kominami E, Yoshida K, Kim KC, Ohashi H.
    Ophthalmic Genet; 1999 Jun 12; 20(2):107-15. PubMed ID: 10420196
    [Abstract] [Full Text] [Related]

  • 16. 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 12; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

  • 17. 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 12; 41(4):341-344. PubMed ID: 32441177
    [Abstract] [Full Text] [Related]

  • 18. 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 12; 43(8):727-34. PubMed ID: 25912515
    [Abstract] [Full Text] [Related]

  • 19. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
    Battu R, Jeyabalan N, Murthy P, Reddy KS, Schouten JS, Webers CA.
    Indian J Ophthalmol; 2016 Dec 12; 64(12):924-929. PubMed ID: 28112135
    [Abstract] [Full Text] [Related]

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

    Page: [Next] [New Search]
    of 10.