Quéré I - Search Results

1

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C. Audrézet MP, et al. Among authors: quere i. Hum Mutat. 2012 Aug;33(8):1239-50. doi: 10.1002/humu.22103. Epub 2012 May 24. Hum Mutat. 2012. PMID: 22508176

2

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

3

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.

4

Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT.

Mercier B, Lissens W, Audrézet MP, Bonduelle M, Quéré I, Hilbert P, Liebaers I, Férec C. Mercier B, et al. Among authors: quere i. Hum Mutat. 1995;6(2):188-9. doi: 10.1002/humu.1380060215. Hum Mutat. 1995. PMID: 7581406 No abstract available.

5

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

6

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

7

Novel mutations in the duplicated region of PKD1 gene.

Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, Cledes J, Ferec C. Perrichot R, et al. Among authors: quere i. Eur J Hum Genet. 2000 May;8(5):353-9. doi: 10.1038/sj.ejhg.5200459. Eur J Hum Genet. 2000. PMID: 10854095

8

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

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: quere i. Hum Genet. 2001 Apr;108(4):290-8. doi: 10.1007/s004390100490. Hum Genet. 2001. PMID: 11379874

10

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

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