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Gene conversion: mechanisms, evolution and human disease.
Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP. Chen JM, et al. Among authors: chuzhanova n. Nat Rev Genet. 2007 Oct;8(10):762-75. doi: 10.1038/nrg2193. Epub 2007 Sep 11. Nat Rev Genet. 2007. PMID: 17846636 Review.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM. Férec C, et al. Among authors: chuzhanova n. Eur J Hum Genet. 2006 May;14(5):567-76. doi: 10.1038/sj.ejhg.5201590. Eur J Hum Genet. 2006. PMID: 16493442
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Among authors: chuzhanova n. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C. Quemener S, et al. Among authors: chuzhanova n. Hum Mutat. 2010 Apr;31(4):421-8. doi: 10.1002/humu.21196. Hum Mutat. 2010. PMID: 20052766 Free PMC article.
83 results