Raguénès O - Search Results

1

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

2

"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: raguenes o. Mol Genet Metab. 2003 May;79(1):67-70. doi: 10.1016/s1096-7192(03)00050-7. Mol Genet Metab. 2003. PMID: 12765848

3

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, Quéré I, Cooper DN, Férec C. Audrézet MP, et al. Among authors: raguenes o. Hum Mutat. 2004 Apr;23(4):343-57. doi: 10.1002/humu.20009. Hum Mutat. 2004. PMID: 15024729

4

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM. Férec C, et al. Among authors: raguenes o. Eur J Hum Genet. 2006 May;14(5):567-76. doi: 10.1038/sj.ejhg.5201590. Eur J Hum Genet. 2006. PMID: 16493442

5

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Boulling A, Le Maréchal C, Trouvé P, Raguénès O, Chen JM, Férec C. Boulling A, et al. Among authors: raguenes o. Eur J Hum Genet. 2007 Sep;15(9):936-42. doi: 10.1038/sj.ejhg.5201873. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568390

6

Genotype analysis of adult cystic fibrosis patients.

Férec C, Verlingue C, Guillermit H, Quéré I, Raguénès O, Feigelson J, Audrézet MP, Moullier P, Mercier B. Férec C, et al. Among authors: raguenes o. Hum Mol Genet. 1993 Oct;2(10):1557-60. doi: 10.1093/hmg/2.10.1557. Hum Mol Genet. 1993. PMID: 7505690

7

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

Férec C, Raguénès O, Salomon R, Roche C, Bernard JP, Guillot M, Quéré I, Faure C, Mercier B, Audrézet MP, Guillausseau PJ, Dupont C, Munnich A, Bignon JD, Le Bodic L. Férec C, et al. Among authors: raguenes o. J Med Genet. 1999 Mar;36(3):228-32. J Med Genet. 1999. PMID: 10204851 Free PMC article.

8

Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis.

Chen JM, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewicz M, Deprez PH, Raguenes O, Quere I, Andriulli A, Ferec C. Chen JM, et al. Among authors: raguenes o. Clin Genet. 2001 Mar;59(3):189-93. doi: 10.1034/j.1399-0004.2001.590308.x. Clin Genet. 2001. PMID: 11260229

9

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. Among authors: raguenes o. Hum Genet. 2001 Apr;108(4):290-8. doi: 10.1007/s004390100490. Hum Genet. 2001. PMID: 11379874

10

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. Among authors: raguenes o. Mol Genet Metab. 2001 Nov;74(3):342-4. doi: 10.1006/mgme.2001.3246. Mol Genet Metab. 2001. PMID: 11708864

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