Férec 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: ferec 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

Detection of over 98% cystic fibrosis mutations in a Celtic population.

Férec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C. Férec C, et al. Nat Genet. 1992 Jun;1(3):188-91. doi: 10.1038/ng0692-188. Nat Genet. 1992. PMID: 1284639

3

A polymorphism in intron 20 of the CFTR gene.

Quere I, Guillermit H, Mercier B, Audrezet MP, Ferec C. Quere I, et al. Among authors: ferec c. Nucleic Acids Res. 1991 Oct 11;19(19):5453. doi: 10.1093/nar/19.19.5453-a. Nucleic Acids Res. 1991. PMID: 1717950 Free PMC article.

4

A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Guillermit H, Fanen P, Ferec C. Guillermit H, et al. Among authors: ferec c. Hum Genet. 1990 Sep;85(4):450-3. doi: 10.1007/BF02428306. Hum Genet. 1990. PMID: 2210769

5

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

6

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.

Verlingue C, Mercier B, Lecoq I, Audrézet MP, Laroche D, Travert G, Férec C. Verlingue C, et al. Among authors: ferec c. Hum Genet. 1994 Apr;93(4):429-34. doi: 10.1007/BF00201669. Hum Genet. 1994. PMID: 7513292

7

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

Audrézet MP, Canki-Klain N, Mercier B, Bracar D, Verlingue C, Férec C. Audrézet MP, et al. Among authors: ferec c. Hum Genet. 1994 Jun;93(6):659-62. doi: 10.1007/BF00201566. Hum Genet. 1994. PMID: 7516305

8

The pancreatitis-associated protein (PAP). A new candidate for neonatal screening of cystic fibrosis.

Iovanna JL, Férec C, Sarles J, Dagorn JC. Iovanna JL, et al. Among authors: ferec c. C R Acad Sci III. 1994 Jun;317(6):561-4. C R Acad Sci III. 1994. PMID: 7527291

9

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrézet MP, Férec C. Mercier B, et al. Among authors: ferec c. Am J Hum Genet. 1995 Jan;56(1):272-7. Am J Hum Genet. 1995. PMID: 7529962 Free PMC article.

10

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: ferec c. Hum Mutat. 1994;4(3):224-6. doi: 10.1002/humu.1380040309. Hum Mutat. 1994. PMID: 7530553 No abstract available.

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