Serre JL - Search Results

1

General cystic fibrosis mutations are usually missense mutations affecting two specific protein domains and associated with a specific RFLP marker haplotype.

Serre JL, Mornet E, Simon-Bouy B, Boué J, Boué A. Serre JL, et al. Eur J Hum Genet. 1993;1(4):287-95. doi: 10.1159/000472426. Eur J Hum Genet. 1993. PMID: 7521765

2

The delta F508 mutation in mild adult forms of cystic fibrosis (CF).

Simon-Bouy B, Mornet E, Taillandier A, Serre JL, Boue J, Boue A. Simon-Bouy B, et al. Among authors: serre jl. Clin Genet. 1991 Apr;39(4):304-5. doi: 10.1111/j.1399-0004.1991.tb03030.x. Clin Genet. 1991. PMID: 1712680

3

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.

Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boué J, Boué A. Simon-Bouy B, et al. Among authors: serre jl. Clin Genet. 1991 Sep;40(3):218-24. doi: 10.1111/j.1399-0004.1991.tb03080.x. Clin Genet. 1991. PMID: 1723032

4

Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot.

Serre JL, Taillandier A, Mornet E, Simon-Bouy B, Boué J, Boué A. Serre JL, et al. Genomics. 1991 Dec;11(4):1149-51. doi: 10.1016/0888-7543(91)90043-e. Genomics. 1991. PMID: 1783382

5

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics.

Serre JL, Simon-Bouy B, Mornet E, Jaume-Roig B, Balassopoulou A, Schwartz M, Taillandier A, Boué J, Boué A. Serre JL, et al. Hum Genet. 1990 Apr;84(5):449-54. doi: 10.1007/BF00195818. Hum Genet. 1990. PMID: 1969843

6

Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.

Jaume-Roig B, Simon-Bouy B, Taillandier A, Serre JL, Antich J, Bellon J, Boué J, Boué A. Jaume-Roig B, et al. Among authors: serre jl. Hum Genet. 1990 Sep;85(4):410-1. doi: 10.1007/BF02428284. Hum Genet. 1990. PMID: 1976593

7

The cystic fibrosis delta F508 mutation in the French population.

Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boué J, Boué A. Simon-Bouy B, et al. Among authors: serre jl. Hum Genet. 1990 Sep;85(4):431-2. doi: 10.1007/BF02428300. Hum Genet. 1990. PMID: 2210765

8

Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes.

Mornet E, Simon-Bouy B, Serre JL, Muller F, Taillandier A, Martinez M, Boue J, Boue A. Mornet E, et al. Among authors: serre jl. Clin Genet. 1989 Feb;35(2):81-7. doi: 10.1111/j.1399-0004.1989.tb02911.x. Clin Genet. 1989. PMID: 2566403

9

Genetic differences between cystic fibrosis with and without meconium ileus.

Mornet E, Simon-Bouy B, Serre JL, Estivill X, Farrall M, Williamson R, Boue J, Boue A. Mornet E, et al. Among authors: serre jl. Lancet. 1988 Feb 20;1(8582):376-8. doi: 10.1016/s0140-6736(88)91180-4. Lancet. 1988. PMID: 2893188

10

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

Oudet C, Mornet E, Serre JL, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C, Tejada I, Boué J, Boué A, et al. Oudet C, et al. Among authors: serre jl. Am J Hum Genet. 1993 Feb;52(2):297-304. Am J Hum Genet. 1993. PMID: 8094266 Free PMC article.

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