Cazeneuve C - Search Results

1

Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.

Bienvenu T, Cazeneuve C, Fajac I, Dusser D, Hubert D, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: cazeneuve c. Hum Hered. 1995 Jan-Feb;45(1):53-4. doi: 10.1159/000154255. Hum Hered. 1995. PMID: 7534748 No abstract available.

2

A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.

Bienvenu T, Cazeneuve C, Beldjord C, Dusser D, Kaplan JC, Hubert D. Bienvenu T, et al. Among authors: cazeneuve c. Hum Mol Genet. 1994 Feb;3(2):365-6. doi: 10.1093/hmg/3.2.365. Hum Mol Genet. 1994. PMID: 7516232 No abstract available.

3

Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.

Bienvenu T, Lacronique V, Raymondjean M, Cazeneuve C, Hubert D, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: cazeneuve c. Hum Genet. 1995 Jun;95(6):698-702. doi: 10.1007/BF00209490. Hum Genet. 1995. PMID: 7540587

4

Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.

Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: cazeneuve c. Hum Mutat. 1995;6(1):23-9. doi: 10.1002/humu.1380060106. Hum Mutat. 1995. PMID: 7550227

5

Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Cazeneuve C, Beldjord C, Kaplan JC, Bienvenu T. Cazeneuve C, et al. Ann Genet. 1995;38(4):202-5. Ann Genet. 1995. PMID: 8629807

6

CFTR gene mutations in adults with disseminated bronchiectasis.

Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M. Girodon E, et al. Among authors: cazeneuve c. Eur J Hum Genet. 1997 May-Jun;5(3):149-55. Eur J Hum Genet. 1997. PMID: 9272738

7

Screening practices for mutations in the CFTR gene ABCC7.

Girodon-Boulandet E, Cazeneuve C, Goossens M. Girodon-Boulandet E, et al. Among authors: cazeneuve c. Hum Mutat. 2000;15(2):135-49. doi: 10.1002/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10649490 Review.

8

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Among authors: cazeneuve c. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036

9

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. Among authors: cazeneuve c. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.

10

CFTR genotypes in patients with normal or borderline sweat chloride levels.

Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: cazeneuve c. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726

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