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59 results
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Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C. Masson E, et al. Among authors: scotet v. Hum Genet. 2008 Feb;123(1):83-91. doi: 10.1007/s00439-007-0459-3. Epub 2008 Jan 3. Hum Genet. 2008. PMID: 18172691
Definition of a "functional R domain" of the cystic fibrosis transmembrane conductance regulator.
Chen JM, Scotet V, Ferec C. Chen JM, et al. Among authors: scotet v. Mol Genet Metab. 2000 Sep-Oct;71(1-2):245-9. doi: 10.1006/mgme.2000.3041. Mol Genet Metab. 2000. PMID: 11001817 Review.
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Scotet V, De Braekeleer M, Audrézet MP, Lodé L, Verlingue C, Quéré I, Mercier B, Duguépéroux I, Codet JP, Moineau MP, Parent P, Férec C. Scotet V, et al. Clin Genet. 2001 Jan;59(1):42-7. doi: 10.1034/j.1399-0004.2001.590107.x. Clin Genet. 2001. PMID: 11168024
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: scotet v. Eur J Hum Genet. 2002 Feb;10(2):100-6. doi: 10.1038/sj.ejhg.5200786. Eur J Hum Genet. 2002. PMID: 11938439
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: scotet v. 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.
Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system.
Andrieux J, Audrézet MP, Frachon I, Leroyer C, Roge C, Scotet V, Férec C. Andrieux J, et al. Among authors: scotet v. Clin Genet. 2002 Jul;62(1):60-7. doi: 10.1034/j.1399-0004.2002.620108.x. Clin Genet. 2002. PMID: 12123489
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. Hum Genet. 2002 Sep;111(3):247-54. doi: 10.1007/s00439-002-0788-1. Epub 2002 Aug 1. Hum Genet. 2002. PMID: 12215837
Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.
Scotet V, Audrézet MP, Roussey M, Rault G, Blayau M, De Braekeleer M, Férec C. Scotet V, et al. Hum Genet. 2003 Aug;113(3):280-5. doi: 10.1007/s00439-003-0962-0. Epub 2003 May 27. Hum Genet. 2003. PMID: 12768409
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V, Barton DE, Watson JB, Audrézet MP, McDevitt T, McQuaid S, Shortt C, De Braekeleer M, Férec C, Le Maréchal C. Scotet V, et al. Hum Mutat. 2003 Jul;22(1):105. doi: 10.1002/humu.9158. Hum Mutat. 2003. PMID: 12815607
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. Jacolot S, et al. Among authors: scotet v. Blood. 2004 Apr 1;103(7):2835-40. doi: 10.1182/blood-2003-10-3366. Epub 2003 Dec 11. Blood. 2004. PMID: 14670915
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