Bienvenu T - Search Results

1

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: bienvenu t. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854

2

Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification.

Bienvenu T, Sebillon P, Labie D, Kaplan JC, Beldjord C. Bienvenu T, et al. Hum Biol. 1992 Feb;64(1):107-13. Hum Biol. 1992. PMID: 1582644

3

Detection of the most frequent beta-thalassemic defect in Southeast Asia by PCR.

Sebillon P, Bienvenu T, Girot R, Labie D, Kaplan JC, Beldjord C. Sebillon P, et al. Among authors: bienvenu t. Hemoglobin. 1991;15(4):313-5. doi: 10.3109/03630269109027885. Hemoglobin. 1991. PMID: 1787100 No abstract available.

4

Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.

Fonknechten N, Bienvenu T, Moriscot C, Beldjord C, Kahn A, Figarella C, Kaplan JC. Fonknechten N, et al. Among authors: bienvenu t. Hum Mol Genet. 1993 Dec;2(12):2141-2. doi: 10.1093/hmg/2.12.2141. Hum Mol Genet. 1993. PMID: 7509229 No abstract available.

5

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.

Bienvenu T, Lenoir G, Fonknechten N, Desclaux-Arramond F, Kaplan JC, Beldjord C. Bienvenu T, et al. Hum Mutat. 1994;3(1):69-70. doi: 10.1002/humu.1380030113. Hum Mutat. 1994. PMID: 7509685 No abstract available.

6

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. 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.

7

Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.

Bienvenu T, Hubert D, Fonknechten N, Dusser D, Kaplan JC, Beldjord C. Bienvenu T, et al. Hum Genet. 1994 Jul;94(1):65-8. doi: 10.1007/BF02272843. Hum Genet. 1994. PMID: 7518409

8

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. Hum Hered. 1995 Jan-Feb;45(1):53-4. doi: 10.1159/000154255. Hum Hered. 1995. PMID: 7534748 No abstract available.

9

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. Hum Genet. 1995 Jun;95(6):698-702. doi: 10.1007/BF00209490. Hum Genet. 1995. PMID: 7540587

10

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. Hum Mutat. 1995;6(1):23-9. doi: 10.1002/humu.1380060106. Hum Mutat. 1995. PMID: 7550227

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