BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (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
    [TBL] [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; 13():2183-93. PubMed ID: 18087237
    [TBL] [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; 15():85. PubMed ID: 26216097
    [TBL] [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; 17():2564-9. PubMed ID: 22025891
    [TBL] [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; 6():35360. PubMed ID: 27739455
    [TBL] [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; 20():325-33. PubMed ID: 24672218
    [TBL] [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; 13(1):221. PubMed ID: 30541579
    [TBL] [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; 164():64-73. PubMed ID: 28774736
    [TBL] [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; 665(1-2):44-50. PubMed ID: 19427510
    [TBL] [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; 20(1):212. PubMed ID: 32487042
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A practical diagnostic test for choroideremia.
    MacDonald IM; Mah DY; Ho YK; Lewis RA; Seabra MC
    Ophthalmology; 1998 Sep; 105(9):1637-40. PubMed ID: 9754170
    [TBL] [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; 40(11):2240-2253. PubMed ID: 31922496
    [TBL] [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; 20(2):107-15. PubMed ID: 10420196
    [TBL] [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; 43(8):727-34. PubMed ID: 25912515
    [TBL] [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; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [TBL] [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; 255(11):2099-2111. PubMed ID: 28752371
    [TBL] [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; 64(12):924-929. PubMed ID: 28112135
    [TBL] [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; 127(7):907-12. PubMed ID: 19597113
    [TBL] [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; 113(11):2066.e1-10. PubMed ID: 16935340
    [TBL] [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; 114(3):147-51. PubMed ID: 17333094
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.