Scotet V - Search Results

1

HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients.

Saliou P, Le Gac G, Mérour MC, Tripogney C, Chanu B, Gourlaouen I, Nousbaum JB, Férec C, Scotet V. Saliou P, et al. Among authors: scotet v. Ann Hematol. 2015 Jul;94(7):1225-7. doi: 10.1007/s00277-015-2343-x. Epub 2015 Mar 6. Ann Hematol. 2015. PMID: 25740382 No abstract available.

2

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.

3

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.

Mura C, Le Gac G, Scotet V, Raguenes O, Mercier AY, Férec C. Mura C, et al. Among authors: scotet v. J Med Genet. 2001 Sep;38(9):632-6. doi: 10.1136/jmg.38.9.632. J Med Genet. 2001. PMID: 11565552 Free PMC article. No abstract available.

4

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

5

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.

6

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

7

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

8

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

Le Gac G, Dupradeau FY, Mura C, Jacolot S, Scotet V, Esnault G, Mercier AY, Rochette J, Férec C. Le Gac G, et al. Among authors: scotet v. Blood Cells Mol Dis. 2003 May-Jun;30(3):231-7. doi: 10.1016/s1079-9796(03)00036-6. Blood Cells Mol Dis. 2003. PMID: 12737937

9

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

10

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

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