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Journal Abstract Search

202 related items for PubMed ID: 32441177

  • 1. 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; 41(4):341-344. PubMed ID: 32441177
    [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. 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
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  • 4. 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 28; 50(6):3009-16. PubMed ID: 19117920
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  • 5. 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
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  • 6. Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.
    Strunnikova NV, Barb J, Sergeev YV, Thiagarajasubramanian A, Silvin C, Munson PJ, Macdonald IM.
    PLoS One; 2009 Dec 22; 4(12):e8402. PubMed ID: 20027300
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  • 7. Choroideremia: a review of general findings and pathogenesis.
    Coussa RG, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun 22; 33(2):57-65. PubMed ID: 22017263
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  • 8. 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 22; 73(4):469-73. PubMed ID: 26411914
    [Abstract] [Full Text] [Related]

  • 9. 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 22; 113(3):268-75. PubMed ID: 12827496
    [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. 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]

  • 12. 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 14; 38(6):704-715. PubMed ID: 28271586
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep 12; 105(9):1637-40. PubMed ID: 9754170
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  • 17. 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 12; 97(6):633-636. PubMed ID: 30690895
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