Boué J - Search Results

1

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

Pham-Dinh D, Popot JL, Boespflug-Tanguy O, Landrieu P, Deleuze JF, Boué J, Jollès P, Dautigny A. Pham-Dinh D, et al. Among authors: boue j. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7562-6. doi: 10.1073/pnas.88.17.7562. Proc Natl Acad Sci U S A. 1991. PMID: 1715570 Free PMC article.

2

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

3

Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia.

Kamoun P, Parvy P, Pham Dinh D, Boué J, Cathelineau L. Kamoun P, et al. Among authors: boue j. Prenat Diagn. 1983 Jan;3(1):53-6. doi: 10.1002/pd.1970030111. Prenat Diagn. 1983. PMID: 6844264 No abstract available.

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

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

6

Improved method for the antenatal diagnosis of citrullinemia.

Cathelineau L, Pham Dinh D, Boué J, Saudubray JM, Farriaux JP, Kamoun P. Cathelineau L, et al. Among authors: boue j. Clin Chim Acta. 1981 Oct 8;116(1):111-5. doi: 10.1016/0009-8981(81)90175-3. Clin Chim Acta. 1981. PMID: 7318170 No abstract available.

7

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

8

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, et al. Rousseau F, et al. Among authors: boue j. N Engl J Med. 1991 Dec 12;325(24):1673-81. doi: 10.1056/NEJM199112123252401. N Engl J Med. 1991. PMID: 1944467 Free article.

9

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C. Bienvenu T, et al. Among authors: boue j. Am J Med Genet. 2000 Aug 14;93(4):294-8. doi: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10946356

10

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.

Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier MT, et al. Akli S, et al. Among authors: boue j. Eur J Hum Genet. 1993;1(3):229-38. doi: 10.1159/000472416. Eur J Hum Genet. 1993. PMID: 8044648

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