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Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
Scotet V, Gillet D, Duguépéroux I, Audrézet MP, Bellis G, Garnier B, Roussey M, Rault G, Parent P, De Braekeleer M, Férec C; Réseau Mucoviscidose Bretagne et Pays de Loire. Scotet V, et al. Among authors: de braekeleer m. Hum Genet. 2002 Sep;111(3):247-54. doi: 10.1007/s00439-002-0788-1. Epub 2002 Aug 1. Hum Genet. 2002. PMID: 12215837
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Clain J, Lehmann-Che J, Duguépéroux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P. Clain J, et al. Among authors: de braekeleer m. Hum Mutat. 2005 Apr;25(4):360-71. doi: 10.1002/humu.20156. Hum Mutat. 2005. PMID: 15776432
Paternity in men with cystic fibrosis: a retrospective survey in France.
Duguépéroux I, Hubert D, Dominique S, Bellis G, De Braekeleer M, Durieu I. Duguépéroux I, et al. Among authors: de braekeleer m. J Cyst Fibros. 2006 Dec;5(4):215-21. doi: 10.1016/j.jcf.2006.03.004. Epub 2006 Apr 19. J Cyst Fibros. 2006. PMID: 16627013 Free article.
Relationship between genotype and phenotype for the CFTR gene W846X mutation.
Duguépéroux I, Bellis G, Férec C, Gillet D, Scotet V, De Braekeleer M; Participating centres of the French CF registry. Duguépéroux I, et al. Among authors: de braekeleer m. J Med Genet. 2002 Jun;39(6):E32. doi: 10.1136/jmg.39.6.e32. J Med Genet. 2002. PMID: 12070264 Free PMC article. No abstract available.
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
Scotet V, de Braekeleer M, Roussey M, Rault G, Parent P, Dagorne M, Journel H, Lemoigne A, Codet JP, Catheline M, David V, Chaventré A, Duguépéroux I, Verlingue C, Quéré I, Mercier B, Audrézet MP, Férec C. Scotet V, et al. Among authors: de braekeleer m. Lancet. 2000 Sep 2;356(9232):789-94. doi: 10.1016/S0140-6736(00)02652-0. Lancet. 2000. PMID: 11022925
298 results