BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 29045269)

  • 1. CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.
    Sengillo JD; Lee W; Bakhoum MF; Cho GY; Chiang JP; Tsang SH
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1(Suppl 1):S67-S71. PubMed ID: 29045269
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Novel Mutation in the Choroideremia Gene in a Turkish Family.
    Iftikhar M; Wolfson Y; Sodhi S; Usmani B; Scholl HPN; Shah SMA
    J Coll Physicians Surg Pak; 2019 Jul; 29(7):677-679. PubMed ID: 31253224
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.
    da Palma MM; Motta FL; Gomes CP; Salles MV; Pesquero JB; Sallum JMF
    Invest Ophthalmol Vis Sci; 2020 Feb; 61(2):38. PubMed ID: 32097478
    [TBL] [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; 15():85. PubMed ID: 26216097
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS; Kim LA; Fawzi AA
    Arch Ophthalmol; 2012 Sep; 130(9):1184-9. PubMed ID: 22965595
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
    Bae K; Song JS; Lee C; Kim NKD; Park WY; Kim BJ; Ki CS; Kim SJ
    Ann Lab Med; 2017 Sep; 37(5):438-442. PubMed ID: 28643494
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
    Iino Y; Fujimaki T; Fujiki K; Murakami A
    Jpn J Ophthalmol; 2008; 52(4):289-297. PubMed ID: 18773267
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the
    Ortiz-Ramirez GY; Villanueva-Mendoza C; Zenteno Ruiz JC; Reyes M; Cortés-González V
    Ophthalmic Genet; 2020 Dec; 41(6):625-628. PubMed ID: 32835561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene.
    Itabashi T; Wada Y; Kawamura M; Sato H; Tamai M
    Retina; 2004 Dec; 24(6):940-5. PubMed ID: 15579993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

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

  • 18. 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]  

  • 19. 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; 17(6):7918-7924. PubMed ID: 29620233
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Multimodal assessment of choroideremia patients defines pre-treatment characteristics.
    Seitz IP; Zhour A; Kohl S; Llavona P; Peter T; Wilhelm B; Zrenner E; Ueffing M; Bartz-Schmidt KU; Fischer MD
    Graefes Arch Clin Exp Ophthalmol; 2015 Dec; 253(12):2143-50. PubMed ID: 25744334
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.