Zobrazeno 1 - 10
of 90
pro vyhledávání: '"André, Boué"'
Autor:
Brigitte Simon-Bouy, J. L. Serre, M Martinez, A. Taillandier, André Boué, Etienne Mornet, Joëlle Boué, F. Muller
Publikováno v:
Clinical Genetics. 35:81-87
CF heterogeneity has been evidenced from both clinical and genetic observations. At least two clinical forms of CF are easily distinguishable: CF with meconium ileus and CF without meconium ileus. The results of prenatal diagnosis have shown that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b37036e00edef40d3d9b7226e7ec56f
https://doi.org/10.1111/j.1399-0004.1989.tb02911.x
https://doi.org/10.1111/j.1399-0004.1989.tb02911.x
Publikováno v:
Clinical Genetics. 40:218-224
Thirteen mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been screened in a French sample of 185 cystic fibrosis (CF) patients, together with their respective associated RFLP haplotypes at the linked D7S23 locus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b357f344339ca97eb8ff8f4da53f68
https://doi.org/10.1111/j.1399-0004.1991.tb03080.x
https://doi.org/10.1111/j.1399-0004.1991.tb03080.x
Autor:
Marc, Peschanski, Michel, Bergeron, André, Boué, Yves, Coppens, Jean-Pierre, Changeux, Pierre, Corvol, Philippe, Lazar, Axel, Kahn, Daniel G, Bichet, Gérard, Friedlander, Jacques, Epelbaum, Guido, Kroemer, Hervé, Chneiweiss, Arnold, Munnich, Michel, Bouvier, Bertrand, Jordan, René, Frydman, Michel, Morange, Michel, Fougereau
Publikováno v:
Medecine sciences : M/S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dce16fe5d73978e5e34130de5fb8f1f0
https://pubmed.ncbi.nlm.nih.gov/26038812
https://pubmed.ncbi.nlm.nih.gov/26038812
Autor:
André Boué
Publikováno v:
Les Cahiers de l'INSEP. 30:63-67
Boué André. La performance et la santé. In: Les Cahiers de l'INSEP, n°30, 2001. Dopage et société sportive. pp. 63-67.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dcee2c4b5300016d9fcb1a33dacc93d
https://doi.org/10.3406/insep.2001.1595
https://doi.org/10.3406/insep.2001.1595
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 97(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70ca249ce077464ccae10161be44ce95
https://pubmed.ncbi.nlm.nih.gov/23873814
https://pubmed.ncbi.nlm.nih.gov/23873814
Autor:
Marie-Charles Raux-Demay, Joelle Boué, Any Bogyo, Benoit Barbat, Frédéarique Kuttenn, André Boué, Brigitte Simon-Bouy, Etienne Mornet, Jean-Louis Serre
Publikováno v:
Human Mutation. 5:126-130
The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3bd3ad31974a8f77fb6888d265855d
https://doi.org/10.1002/humu.1380050205
https://doi.org/10.1002/humu.1380050205
Autor:
Claire Nihoul-Fékété, Marc Dommergues, Yves Ville, Nicole Delvalez-Morichon, Fanny Lewin, André Boué, Yves Dumez, Fréderic Bargy, Françoise Muller
Publikováno v:
Prenatal Diagnosis. 14:973-979
The diagnostic value of amniotic fluid gamma-glutamyl-transpeptidase (GGTP) and intestinal alkaline phosphatase (iALP) was evaluated in 55 patients who underwent amniocentesis for karyotyping because fetal gastric or small bowel dilatation had been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f3876467e47939f2e62c328a927a67b
https://doi.org/10.1002/pd.1970141013
https://doi.org/10.1002/pd.1970141013
Autor:
Laurence Bussières, Claire Boué, Marie-Christine Pèlissier, F. Muller, Jean-François Oury, Serge Uzan, André Boué
Publikováno v:
Prenatal Diagnosis. 14:633-636
In Down syndrome screening by maternal serum human chorionic gonadotropin (hCG) determination at 15, 16, 17, and 18 weeks of gestation, we prospectively examined 23,369 sera from white (21,549), North African (970), black African (525), and Asian (32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb81328bec8df06313a6adb8aa07e3b
https://doi.org/10.1002/pd.1970140721
https://doi.org/10.1002/pd.1970140721
Autor:
Kenneth L. Garver, James N. Macri, André Boué, Françoise Muller, Kevin Spencer, Philip D. Buchanan, David A. Aitken
Publikováno v:
Prenatal Diagnosis. 13:557-562
Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Dow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d24ec78135c07fd1a61237ee955233c
https://doi.org/10.1002/pd.1970130704
https://doi.org/10.1002/pd.1970130704
Publikováno v:
Prenatal Diagnosis. 13:29-43
A prospective study of maternal serum human chorionic gonadotrophin (hCG) measurement for the selection of pregnancies with an increased risk of fetal trisomy 21 was undertaken in 24 000 pregnancies from 1 January 1989 to 31 December 1990. Maternal s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca31b9f724dbb9ae121c9a987bf35c32
https://doi.org/10.1002/pd.1970130106
https://doi.org/10.1002/pd.1970130106