Kaplan JC - Search Results

1

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. Among authors: kaplan jc. Hum Genet. 1994 Jul;94(1):65-8. doi: 10.1007/BF02272843. Hum Genet. 1994. PMID: 7518409

2

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.

Bienvenu T, Hubert D, Setbon E, Dusser D, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: kaplan jc. Hum Mutat. 1996;7(2):182. doi: 10.1002/(SICI)1098-1004(1996)7:2<182::AID-HUMU19>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8829643 No abstract available.

3

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.

Bienvenu T, Beldjord C, Chelly J, Fonknechten N, Hubert D, Dusser D, Kaplan JC. Bienvenu T, et al. Among authors: kaplan jc. Eur J Hum Genet. 1996;4(3):127-34. doi: 10.1159/000472186. Eur J Hum Genet. 1996. PMID: 8840112

4

A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.

Bienvenu T, Cartault F, Lesure F, Renouil M, Beldjord C, Kaplan JC. Bienvenu T, et al. Among authors: kaplan jc. Hum Hered. 1996 May-Jun;46(3):168-71. doi: 10.1159/000154347. Hum Hered. 1996. PMID: 8860012

5

Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.

Bienvenu T, Adjiman M, Thiounn N, Jeanpierre M, Hubert D, Lepercoq J, Francoual C, Wolf J, Izard V, Jouannet P, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: kaplan jc. Ann Genet. 1997;40(1):5-9. Ann Genet. 1997. PMID: 9150843

6

1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene.

Bienvenu T, Bousquet S, Lyonnet S, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: kaplan jc. Hum Hered. 1997 May-Jun;47(3):173-5. doi: 10.1159/000154407. Hum Hered. 1997. PMID: 9156329 Free article. No abstract available.

7

Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.

Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T. Loumi O, et al. Among authors: kaplan jc. Hum Hered. 1999 Mar;49(2):81-4. doi: 10.1159/000022849. Hum Hered. 1999. PMID: 10077727

8

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

Bienvenu T, Bousquet S, Vidaud D, Hubert D, Francoual C, Beldjord C, Kaplan JC. Bienvenu T, et al. Among authors: kaplan jc. Hum Mutat. 1998;12(3):213-4. Hum Mutat. 1998. PMID: 10651488

9

Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.

Fonknechten N, Chomel JC, Kitzis A, Kahn A, Kaplan JC. Fonknechten N, et al. Among authors: kaplan jc. Hum Mol Genet. 1992 Jul;1(4):281-2. doi: 10.1093/hmg/1.4.281. Hum Mol Genet. 1992. PMID: 1284626 No abstract available.

10

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.

Fonknechten N, Chelly J, Lepercq J, Kahn A, Kaplan JC, Kitzis A, Chomel JC. Fonknechten N, et al. Among authors: kaplan jc. Hum Genet. 1992 Mar;88(5):508-12. doi: 10.1007/BF00219336. Hum Genet. 1992. PMID: 1372586

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