Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Joelle Boué"'
1
Prenatal diagnosis of fucosidosis
Autor: Jean-Claude Dreyfus, Livia Poenaru, Nicole Ravise, Joelle Boué, Jacques Bamberger, Henriette Nicolesco
Publikováno v: Clinical Genetics. 10:260-264
A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, om amniotic fluid and amniotic fluid cells of the fetus
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0acb254c52f5c4dcea62fa749c28d12
https://doi.org/10.1111/j.1399-0004.1976.tb00046.x
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2
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
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
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3
Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism
Autor: Julian Zielenski, Etienne Mornet, Brigitte Simon-Bouy, Lap-Chee Tsui, Corinne Chateau, Joelle Boué, André Boué
Publikováno v: Human Genetics. 88:479-481
We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the delta F508 mutation (i.e.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f40af33d1960defedde470f74df9a84e
https://doi.org/10.1007/bf00215687
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4
Molecular analysis of a ring chromosome X in a family with fragile X syndrome
Autor: Christiane Deluchat, André Boué, Marie Claude Grisard, Michèle Mathieu, Joelle Boué, Brigitte Simon-Bouy, François Thepot, Etienne Mornet, Any Bogyo, Eric LeGuern
Publikováno v: Human genetics. 92(4)
The phenotypically normal sister of a patient affected by fragile X syndrome was referred for genetic counselling and was found to carry a mosaic karyotype 46,X,r(X)/45,X. Because the probability of the simultaneous chance occurrence of fragile X syn
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a4fb437bd07eefca4a68d35ed7d236
https://pubmed.ncbi.nlm.nih.gov/8225318
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5
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
Autor: Sandra Blumenfeld, I. Oberlé, Niels Tommerup, Célia Delozier-Blanchet, Dominique Heitz, Marie Françoise Croquette, Carl Birger van der Hagen, François Rousseau, Jean-Louis Mandel, Valérie Biancalana, Pierre Jalbert, Simon Gilgenkrantz, Christine Kretz, Marie-Antoinette Voelckel, Joelle Boué
Publikováno v: The New England journal of medicine. 325(24)
The fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome (in Xq27.3). Affected persons have both a full mutation and abnormal DNA methyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17026e6488c812e1122dd3705a6deb7b
https://pubmed.ncbi.nlm.nih.gov/1944474
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6
Lambda lg constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8:22
Autor: Gilbert M. Lenoir, Albert de la Chapelte, Pia Gallano, André Boué, Jean-Claude Kaplan, Marc Jeanpierre, Marie-France Szajnert, Joelle Boué, Cécile Huerre, Jean-Marc LaloueP
Publikováno v: Nucleic Acids Research. 11:1133-1142
By in situ hybridization of normal human chromosomes with a cloned genomic probe specific for the constant region of the lambda immunoglobulin genes, band 22q11 was preferentially labelled. In two cell lines with t(8;22) derived from Burkitt's lympho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00793203da4762b6f6329ce4a8fb99dd
https://doi.org/10.1093/nar/11.4.1133
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9
Action du virus de la rub�ole sur diff�rents syst�mes de cultures de cellules embryonnaires humaines
Autor: Joelle Boué, Stanley A. Plotkin, André Boué
Publikováno v: Archiv f�r die gesamte Virusforschung. 16:443-458
Le virus de la rubeole peut se multiplier pendant un temps prolonge dans les cultures de cellules embryonnaires humaines; il a ete possible d'etablir des souches cellulaires diploides chroniquement infectees par le virus de la rubeole. Des phenomenes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::20018fd71c0d2fd62d4561043856f37c
https://doi.org/10.1007/bf01253853
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10
Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses
Autor: Joelle Boué, Emile Philippe, André Boué, A. E. Szulman
Publikováno v: Human pathology. 12(11)
A retrospective pathologic review of nearly 100 spontaneous abortions of cytogenetically verified triploid constitution revealed a majority (86 per cent) falling within the category of partial hydatidiform mole, the chief criteria being focal syncyti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812ce2ba9b9c885b130a4eb1bfc985b3
https://pubmed.ncbi.nlm.nih.gov/7319489
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