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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: raguenes o. Eur J Hum Genet. 2006 May;14(5):567-76. doi: 10.1038/sj.ejhg.5201590. Eur J Hum Genet. 2006. PMID: 16493442
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
Audrézet MP, Chen JM, Le Maréchal C, Ruszniewski P, Robaszkiewicz M, Raguénès O, Quéré I, Scotet V, Férec C. Audrézet MP, et al. Among authors: raguenes o. Eur J Hum Genet. 2002 Feb;10(2):100-6. doi: 10.1038/sj.ejhg.5200786. Eur J Hum Genet. 2002. PMID: 11938439
Detection of two Alu insertions in the CFTR gene.
Chen JM, Masson E, Macek M Jr, Raguénès O, Piskackova T, Fercot B, Fila L, Cooper DN, Audrézet MP, Férec C. Chen JM, et al. Among authors: raguenes o. J Cyst Fibros. 2008 Jan;7(1):37-43. doi: 10.1016/j.jcf.2007.04.001. Epub 2007 May 24. J Cyst Fibros. 2008. PMID: 17531547 Free article.
Genotype analysis of adult cystic fibrosis patients.
Férec C, Verlingue C, Guillermit H, Quéré I, Raguénès O, Feigelson J, Audrézet MP, Moullier P, Mercier B. Férec C, et al. Among authors: raguenes o. Hum Mol Genet. 1993 Oct;2(10):1557-60. doi: 10.1093/hmg/2.10.1557. Hum Mol Genet. 1993. PMID: 7505690
Association of 1078 del T cystic fibrosis mutation with severe disease.
Moullier P, Jéhanne M, Audrézet MP, Mercier B, Verlingue C, Quéré I, Guillermit H, Raguénès O, Storni V, Rault G, et al. Moullier P, et al. Among authors: raguenes o. J Med Genet. 1994 Feb;31(2):159-61. doi: 10.1136/jmg.31.2.159. J Med Genet. 1994. PMID: 7514227 Free PMC article.
44 results