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

216 related items for PubMed ID: 28271586

  • 1. 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; 38(6):704-715. PubMed ID: 28271586
    [Abstract] [Full Text] [Related]

  • 2. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
    Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.
    Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):3009-16. PubMed ID: 19117920
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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. 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]

  • 6. 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]

  • 7. 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]

  • 8. 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 12; 113(3):268-75. PubMed ID: 12827496
    [Abstract] [Full Text] [Related]

  • 9. Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
    Moosajee M, Tracey-White D, Smart M, Weetall M, Torriano S, Kalatzis V, da Cruz L, Coffey P, Webster AR, Welch E.
    Hum Mol Genet; 2016 Aug 15; 25(16):3416-3431. PubMed ID: 27329764
    [Abstract] [Full Text] [Related]

  • 10. The functional effect of pathogenic mutations in Rab escort protein 1.
    Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM.
    Mutat Res; 2009 Jun 01; 665(1-2):44-50. PubMed ID: 19427510
    [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 01; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 12. 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 Sep 01; 17():2564-9. PubMed ID: 22025891
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 97(6):633-636. PubMed ID: 30690895
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 41(4):341-344. PubMed ID: 32441177
    [Abstract] [Full Text] [Related]

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

  • 16. 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 01; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 17. Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.
    Yip SP, Cheung TS, Chu MY, Cheung SC, Leung KW, Tsang KP, Lam ST, To CH.
    Mol Vis; 2007 Nov 27; 13():2183-93. PubMed ID: 18087237
    [Abstract] [Full Text] [Related]

  • 18. 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 Nov 27; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 19. 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 Nov 27; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 11.