Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Brigitte Boissier"'
Autor:
Annick LeFloch, Christine Gameiro, Jean-Marie Jouannic, Emmanuelle Girodon, J.P. Martin, Rachel Médina, Corinne Alberti, Irina Giurgea, Catherine Costa, Alix de Becdelièvre, Françoise Muller, Michel Goossens, Brigitte Boissier
Publikováno v:
Human Genetics. 129:387-396
Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in such pregnancies, according to European recommendations. We report on ou
Autor:
Marianne Schwartz, Veronika Skalická, Miroslava Balascakova, Manfred Stuhrmann, Martine Jaspers, Frauke Stanke, Kris De Boeck, Burkhard Tümmler, Isabelle de Monestrol, Judit Korbmacher, Brigitte Boissier, Lena Hjelte, Yann Fichou, Harry Cuppens, L. Bassinet, Mireille Claustres, Abul Kalam Azad, Marie des Georges, Dragica Radojkovic, Christoph Korbmacher, Robert Rauh, Jean-Jacques Cassiman, Martin Schwarz, François Vermeulen, Emmanuelle Girodon, Lieven Dupont, Claude Férec, Carlo Castellani, Patrick Lebecque
Publikováno v:
Human Mutation. 30:1093-1103
We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could
Autor:
Serge Amselem, Zaruhi Hovannesyan, David Geneviève, Tamara Sarkisian, Josué Feingold, Brigitte Boissier, Karine Atayan, Hasmik Hayrapetyan, Stéphanie Papin, Emmanuelle Girodon-Boulandet, Cécile Cazeneuve
Publikováno v:
Arthritis & Rheumatism. 48:2324-2331
Objective Familial Mediterranean fever (FMF) is an autosomal-recessive disorder that is common in Armenian, Turkish, Arab, and Sephardic Jewish populations. Its clinical diagnosis is one of exclusion, with the patients displaying nonspecific symptoms
Autor:
Florence Dastot-Le Moal, Valère Cacheux, Helena Kääriäinen, Michel Goossens, Brigitte Boissier, Risto Rintala, Nadege Bondurand, Meredith Wilson, David Mowat
Publikováno v:
Human Molecular Genetics. 10:1503-1510
Hirschsprung disease (HD) has been described in association with microcephaly, mental retardation and characteristic facial features, delineating a syndrome possibly caused by mutations localized at chromosome 2q22--q23. We have analyzed a de novo tr
Autor:
David Geneviève, Tamara Sarkisian, Ashot Sarkisian, Elizaveta Mndjoyan, Serge Amselem, Stéphanie Papin, Brigitte Boissier, Philippe Duquesnoy, Marina Papazian, Gilles Grateau, Ara Babloyan, Jean-Claude Kouyoumdjian, Emmanuelle Girodon-Boulandet, Françoise Roudot-Thoraval, Cécile Cazeneuve, Hasmik Ajrapetyan
Publikováno v:
The American Journal of Human Genetics. 67:1136-1143
Familial Mediterranean fever (FMF) is a recessively inherited disorder predisposing to renal amyloidosis and associated with mutations in MEFV, a gene encoding a protein of unknown function. Differences in clinical expression have been attributed to
Autor:
Dany Rouillard, Y. Remvikos, J. Villaudy, Marie‐Claude Falzone, Richard Hamelin, M.T. Chaumette, Karen Leroy‐Viard, Brigitte Boissier, Pascal Hammel
Publikováno v:
International Journal of Cancer. 81:712-718
Only half of colorectal-cancer patients elicit serum antibodies in response to intratumoral p53-gene mutations. Our study was designed to compare cellular events (p53-protein accumulation and gene mutations) with the presence of circulating anti-p53
Autor:
J.P. Martin, Catherine Costa, Michel Goossens, Jean-Marc Costa, Brigitte Boissier, Emmanuelle Girodon
Publikováno v:
Clinical Chemistry
Clinical Chemistry, American Association for Clinical Chemistry, 2008, 54 (9), pp.1564-7. ⟨10.1373/clinchem.2008.103259⟩
Clinical Chemistry, American Association for Clinical Chemistry, 2008, 54 (9), pp.1564-7. ⟨10.1373/clinchem.2008.103259⟩
Background: Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR pathology. The (TG)m locus influences the penetrance of the (T)5 allele
Autor:
Cécile, Cazeneuve, Zaruhi, Hovannesyan, David, Geneviève, Hasmik, Hayrapetyan, Stéphanie, Papin, Emmanuelle, Girodon-Boulandet, Brigitte, Boissier, Josué, Feingold, Karine, Atayan, Tamara, Sarkisian, Serge, Amselem
Publikováno v:
Arthritis and rheumatism. 48(8)
Familial Mediterranean fever (FMF) is an autosomal-recessive disorder that is common in Armenian, Turkish, Arab, and Sephardic Jewish populations. Its clinical diagnosis is one of exclusion, with the patients displaying nonspecific symptoms related t
Autor:
Brigitte Boissier, J Martin, Michel Goossens, V Delattre, Emmanuelle Girodon, F Dastot-Le Moal, Florence Niel, B Costes
Publikováno v:
Journal of Medical Genetics. 41:e118-e118
Cystic fibrosis (CF) (MIM 219700) is one of the most common autosomal recessive diseases in Caucasians.1 It affects about 1 in 2500 births and approximately 1 in 25 individuals are heterozygotes, with marked regional variations2 (www.genet.sickkids.o
Autor:
E. Girodon, Christine Gameiro, A. de Becdelièvre, J.P. Martin, A. Le Floch, Catherine Costa, Brigitte Boissier, C. Alberti-Boulmé, Michel Goossens, R. Medina, Irina Giurgea, Jean-Marie Jouannic
Publikováno v:
Journal of Cystic Fibrosis. :S11