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Journal Abstract Search

290 related items for PubMed ID: 22017263

  • 1. Choroideremia: a review of general findings and pathogenesis.
    Coussa RG, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun; 33(2):57-65. PubMed ID: 22017263
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  • 3. Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia.
    Imani S, Ijaz I, Shasaltaneh MD, Fu S, Cheng J, Fu J.
    Mutat Res Rev Mutat Res; 2018 Jun; 775():39-50. PubMed ID: 29555028
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  • 5. 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; 73(4):469-73. PubMed ID: 26411914
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  • 8. 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
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  • 9. 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
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  • 10. 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
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  • 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
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  • 13. Spatial and temporal expression patterns of the choroideremia gene in the mouse retina.
    Keiser NW, Tang W, Wei Z, Bennett J.
    Mol Vis; 2005 Dec 07; 11():1052-60. PubMed ID: 16357828
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  • 15. 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 07; 125(8):1107-13. PubMed ID: 17698759
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  • 16. 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 07; 20(2):107-15. PubMed ID: 10420196
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  • 18. Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.
    Alory C, Balch WE.
    Traffic; 2001 Aug 07; 2(8):532-43. PubMed ID: 11489211
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  • 19. Choroideremia: molecular mechanisms and development of AAV gene therapy.
    Patrício MI, Barnard AR, Xue K, MacLaren RE.
    Expert Opin Biol Ther; 2018 Jul 07; 18(7):807-820. PubMed ID: 29932012
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