Quéré I - Search Results

1

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: quere i. Mol Genet Metab. 2001 Nov;74(3):342-4. doi: 10.1006/mgme.2001.3246. Mol Genet Metab. 2001. PMID: 11708864

2

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

3

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: quere i. J Med Genet. 1999 Mar;36(3):228-32. J Med Genet. 1999. PMID: 10204851 Free PMC article.

4

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: quere i. Clin Genet. 2001 Mar;59(3):189-93. doi: 10.1034/j.1399-0004.2001.590308.x. Clin Genet. 2001. PMID: 11260229

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. Among authors: quere i. 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

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: quere i. Hum Mutat. 2004 Apr;23(4):343-57. doi: 10.1002/humu.20009. Hum Mutat. 2004. PMID: 15024729

7

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: quere i. Hum Mol Genet. 1993 Oct;2(10):1557-60. doi: 10.1093/hmg/2.10.1557. Hum Mol Genet. 1993. PMID: 7505690

8

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.

Mercier B, Audrézet MP, Feigelson J, Douchain F, Raguénès O, Verlingue C, Quéré I, Férec C. Mercier B, et al. Among authors: quere i. Hum Mutat. 1994;4(3):224-6. doi: 10.1002/humu.1380040309. Hum Mutat. 1994. PMID: 7530553 No abstract available.

9

A novel mutation in exon 3 of the CFTR gene.

Guillermit H, Jéhanne M, Quéré I, Audrézet MP, Mercier B, Férec C. Guillermit H, et al. Among authors: quere i. Hum Genet. 1993 Apr;91(3):233-5. doi: 10.1007/BF00218262. Hum Genet. 1993. PMID: 7682984

10

Identification of 12 novel mutations in the CFTR gene.

Audrézet MP, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C. Audrézet MP, et al. Among authors: quere i. Hum Mol Genet. 1993 Jan;2(1):51-4. doi: 10.1093/hmg/2.1.51. Hum Mol Genet. 1993. PMID: 7683952

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