Boué J - Search Results

1

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.

Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boué J, Simon-Bouy B, Serre JL, Mornet E. Barbat B, et al. Among authors: boue j. Hum Mutat. 1995;5(2):126-30. doi: 10.1002/humu.1380050205. Hum Mutat. 1995. PMID: 7749410

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

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

4

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.

5

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

6

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

7

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

8

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. Among authors: boue a, boue j. Genomics. 1991 Dec;11(4):1149-51. doi: 10.1016/0888-7543(91)90043-e. Genomics. 1991. PMID: 1783382

9

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

10

Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes.

Raux-Demay M, Mornet E, Boue J, Couillin P, Oury JF, Ravise N, Deluchat C, Boue A. Raux-Demay M, et al. Among authors: boue a, boue j. Prenat Diagn. 1989 Jul;9(7):457-66. doi: 10.1002/pd.1970090702. Prenat Diagn. 1989. PMID: 2788885

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