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CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Among authors: audrezet mp. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
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. Eur J Hum Genet. 2002 Feb;10(2):100-6. doi: 10.1038/sj.ejhg.5200786. Eur J Hum Genet. 2002. PMID: 11938439
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: audrezet mp. Hum Genet. 2002 Sep;111(3):247-54. doi: 10.1007/s00439-002-0788-1. Epub 2002 Aug 1. Hum Genet. 2002. PMID: 12215837
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: audrezet mp. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
Analysis of genomic CFTR DNA.
Férec C, Le Maréchal C, Audrézet MP, Farinha CM, Amaral MD, Gallati S, Sanz J, Steiner B, Mouchel N, Harris A, Schwarz MJ. Férec C, et al. Among authors: audrezet mp. J Cyst Fibros. 2004 Aug;3 Suppl 2:7-10. doi: 10.1016/j.jcf.2004.05.003. J Cyst Fibros. 2004. PMID: 15463917 Free article. Review.
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges Md, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrézet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF. Modiano G, et al. Among authors: audrezet mp. Eur J Hum Genet. 2005 Feb;13(2):184-92. doi: 10.1038/sj.ejhg.5201306. Eur J Hum Genet. 2005. PMID: 15536480
Cystic fibrosis mutations and genotype-pulmonary phenotype analysis.
Braun AT, Farrell PM, Ferec C, Audrezet MP, Laxova A, Li Z, Kosorok MR, Rosenberg MA, Gershan WM. Braun AT, et al. Among authors: audrezet mp. J Cyst Fibros. 2006 Jan;5(1):33-41. doi: 10.1016/j.jcf.2005.09.008. Epub 2005 Nov 4. J Cyst Fibros. 2006. PMID: 16275171 Free article. Clinical Trial.
126 results