Le Maréchal C - Search Results

1

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.

Masson E, Le Maréchal C, Levy P, Chuzhanova N, Ruszniewski P, Cooper DN, Chen JM, Férec C. Masson E, et al. Among authors: le marechal c. Mol Genet Metab. 2007 Sep-Oct;92(1-2):168-75. doi: 10.1016/j.ymgme.2007.06.006. Epub 2007 Jul 27. Mol Genet Metab. 2007. PMID: 17681820

2

No association between factor V Leiden and C282Y mutation in the hereditary hemochromatosis gene.

Le Maréchal C, Raguénés O, Ferec C. Le Maréchal C, et al. Blood. 1999 Jun 1;93(11):4024-5. Blood. 1999. PMID: 10383194 Free article. No abstract available.

3

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

Le Maréchal C, Audrézet MP, Quéré I, Raguénès O, Langonné S, Férec C. Le Maréchal C, et al. Hum Genet. 2001 Apr;108(4):290-8. doi: 10.1007/s004390100490. Hum Genet. 2001. PMID: 11379874

4

Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).

Le Maréchal C, Bretagne JF, Raguénès O, Quéré I, Chen JM, Ferec C. Le Maréchal C, et al. Mol Genet Metab. 2001 Nov;74(3):342-4. doi: 10.1006/mgme.2001.3246. Mol Genet Metab. 2001. PMID: 11708864

5

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

Le Maréchal C, Chen JM, Quéré I, Raguénès O, Férec C, Auroux J. Le Maréchal C, et al. BMC Genet. 2001;2:19. doi: 10.1186/1471-2156-2-19. Epub 2001 Nov 19. BMC Genet. 2001. PMID: 11734061 Free PMC article.

6

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: le marechal c. Eur J Hum Genet. 2002 Feb;10(2):100-6. doi: 10.1038/sj.ejhg.5200786. Eur J Hum Genet. 2002. PMID: 11938439

7

"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.

Chen JM, Le Maréchal C, Lucas D, Raguénès O, Férec C. Chen JM, et al. Among authors: le marechal c. Mol Genet Metab. 2003 May;79(1):67-70. doi: 10.1016/s1096-7192(03)00050-7. Mol Genet Metab. 2003. PMID: 12765848

8

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. Among authors: le marechal c. Hum Mutat. 2003 Jul;22(1):105. doi: 10.1002/humu.9158. Hum Mutat. 2003. PMID: 12815607

9

Evolution of trypsinogen activation peptides.

Chen JM, Kukor Z, Le Maréchal C, Tóth M, Tsakiris L, Raguénès O, Férec C, Sahin-Tóth M. Chen JM, et al. Among authors: le marechal c. Mol Biol Evol. 2003 Nov;20(11):1767-77. doi: 10.1093/molbev/msg183. Epub 2003 Jun 27. Mol Biol Evol. 2003. PMID: 12832630

10

Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

Teich N, Le Maréchal C, Kukor Z, Caca K, Witzigmann H, Chen JM, Tóth M, Mössner J, Keim V, Férec C, Sahin-Tóth M. Teich N, et al. Among authors: le marechal c. Hum Mutat. 2004 Jan;23(1):22-31. doi: 10.1002/humu.10285. Hum Mutat. 2004. PMID: 14695529

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