Boué A - Search Results

1

Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Mornet E, Bogyo A, Deluchat C, Simon-Bouy B, Mathieu M, Thépot F, Grisard MC, Leguern E, Boué J, Boué A. Mornet E, et al. Among authors: boue a, boue j. Hum Genet. 1993 Oct;92(4):373-8. doi: 10.1007/BF01247338. Hum Genet. 1993. PMID: 8225318

2

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

3

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: boue a, boue j. Am J Hum Genet. 1993 Feb;52(2):297-304. Am J Hum Genet. 1993. PMID: 8094266 Free PMC article.

4

Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.

Mornet E, Jokic M, Bogyo A, Tejada I, Deluchat C, Boué J, Boué A. Mornet E, et al. Among authors: boue a, boue j. Clin Genet. 1993 Mar;43(3):157-9. doi: 10.1111/j.1399-0004.1993.tb04462.x. Clin Genet. 1993. PMID: 8098999

5

Direct DNA analysis of fragile X syndrome in Spanish pedigrees.

Tejada I, Mornet E, Biancalana V, Oberlé I, Boué J, Mandel JL, Boué A. Tejada I, et al. Among authors: boue a, boue j. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):282-90. doi: 10.1002/ajmg.1320430144. Am J Med Genet. 1992. PMID: 1351363

6

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

7

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

8

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

9

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.

10

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

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