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Journal Abstract Search

157 related items for PubMed ID: 22355242

  • 1. 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; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

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

  • 5. 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]

  • 6. 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 Oct 14; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients.
    Zhou Q, Yao F, Han X, Li H, Yang L, Sui R.
    Exp Eye Res; 2017 Nov 12; 164():64-73. PubMed ID: 28774736
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
    Gao FJ, Tian GH, Hu FY, Wang DD, Li JK, Chang Q, Chen F, Xu GZ, Liu W, Wu JH.
    BMC Ophthalmol; 2020 Jun 01; 20(1):212. PubMed ID: 32487042
    [Abstract] [Full Text] [Related]

  • 11. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep 01; 105(9):1637-40. PubMed ID: 9754170
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 40(11):2240-2253. PubMed ID: 31922496
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 20(2):107-15. PubMed ID: 10420196
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 43(8):727-34. PubMed ID: 25912515
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [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. 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 01; 64(12):924-929. PubMed ID: 28112135
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 127(7):907-12. PubMed ID: 19597113
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 20. Choroideremia carriers maintain a normal electro-oculogram (EOG).
    Yau RJ, Sereda CA, McTaggart KE, Sauvé Y, MacDonald IM.
    Doc Ophthalmol; 2007 May 01; 114(3):147-51. PubMed ID: 17333094
    [Abstract] [Full Text] [Related]

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