Boué A - Search Results

1

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Mornet E, Crété P, Kuttenn F, Raux-Demay MC, Boué J, White PC, Boué A. Mornet E, et al. Among authors: boue a, boue j. Am J Hum Genet. 1991 Jan;48(1):79-88. Am J Hum Genet. 1991. PMID: 1985465 Free PMC article.

2

[Current data on the molecular biology of 21-hydroxylase deficiency. Diagnostic applications].

Mornet E, Boué J, Crète P, Raux-Demay MC, Kutten F, Boué A. Mornet E, et al. Among authors: boue a, boue j. Arch Fr Pediatr. 1992 Jan;49(1):57-62. Arch Fr Pediatr. 1992. PMID: 1550455 French. No abstract available.

3

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: boue a, boue j. Hum Genet. 1990 Sep;85(4):431-2. doi: 10.1007/BF02428300. Hum Genet. 1990. PMID: 2210765

4

Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency.

Mornet E, Couillin P, Kutten F, Raux MC, White PC, Cohen D, Boué A, Dausset J. Mornet E, et al. Among authors: boue a. Hum Genet. 1986 Dec;74(4):402-8. doi: 10.1007/BF00280494. Hum Genet. 1986. PMID: 2878869

5

Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism.

Mornet E, Chateau C, Simon-Bouy B, Boue J, Zielenski J, Tsui LC, Boue A. Mornet E, et al. Among authors: boue a, boue j. Hum Genet. 1992 Feb;88(4):479-81. doi: 10.1007/BF00215687. Hum Genet. 1992. PMID: 1371264

6

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: boue a, boue j. Clin Genet. 1991 Apr;39(4):304-5. doi: 10.1111/j.1399-0004.1991.tb03030.x. Clin Genet. 1991. PMID: 1712680

7

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: boue a, boue j. Clin Genet. 1991 Sep;40(3):218-24. doi: 10.1111/j.1399-0004.1991.tb03080.x. Clin Genet. 1991. PMID: 1723032

8

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. Among authors: boue a, boue j. Hum Genet. 1990 Apr;84(5):449-54. doi: 10.1007/BF00195818. Hum Genet. 1990. PMID: 1969843

9

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: boue a, boue j. Hum Genet. 1990 Sep;85(4):410-1. doi: 10.1007/BF02428284. Hum Genet. 1990. PMID: 1976593

10

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: boue a, boue j. Clin Genet. 1989 Feb;35(2):81-7. doi: 10.1111/j.1399-0004.1989.tb02911.x. Clin Genet. 1989. PMID: 2566403

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