Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Marie Desgeorges"'
Autor:
Claire Guissart, C. Bareil, C. Raynal, Marie Desgeorges, Michel Koenig, Marie-Claire Vincent, Mireille Claustres, Caroline Toga, Vanessa Debant, Victoria Pritchard
Publikováno v:
Clinical Chemistry and Laboratory Medicine
Clinical Chemistry and Laboratory Medicine, De Gruyter, 2015, 53 (2), pp.205-15. ⟨10.1515/cclm-2014-0501⟩
Clinical Chemistry and Laboratory Medicine, De Gruyter, 2015, 53 (2), pp.205-15. ⟨10.1515/cclm-2014-0501⟩
Analysis of circulating cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis of monogenic diseases. However, this approach is not yet available for routine use and remains technically challenging because of the low co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f764543cd80a81eff847d104df35d4
https://doi.org/10.1515/cclm-2014-0501
https://doi.org/10.1515/cclm-2014-0501
Autor:
Virginie Scotet, Dominique Delmas, Mireille Claustres, Marie Pierre Audrézet, Anne Munck, Michel Roussey, Claude Férec, Marie Desgeorges
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 17(2)
Newborn screening (NBS) for cystic fibrosis (CF) was implemented throughout France in 2002. It involves a four-tiered procedure: immunoreactive trypsin (IRT)/DNA/IRT/sweat test was implemented throughout France in 2002. The aim of this study was to a
Autor:
Mireille Claustres, Marie Desgeorges, C. Guittard, Andrew J Wallace, R Labrum, A Goldman, Michèle Ramsay
Publikováno v:
Clinical Genetics. 59:37-41
The spectrum of CFTR mutations in three South African populations is presented. To date. a total of 192 white patients (384 chromosomes) with confirmed CF have been tested. deltaF508 accounts for 76% of the CF chromosomes in this group, with 3272-26A
Autor:
Marie Desgeorges, Jacques Demaille, Sylvie Tuffery, Mireille Claustres, Marie-Catherine Romey, Thierry Bienvenu
Publikováno v:
Human Genetics. 98:328-332
mRNA transcripts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene were analyzed from lymphocytes of two cystic fibrosis compound heterozygotes (394delTT/3195del6 and 1215delG/ 2423delG), of five related carriers heterozygous for
Autor:
Gaby Razakatsara, Mireille Claustres, Jean-Françols Culard, Muriel Giansily, Maguelone Laussel, Marie Desgeorges, Jacques Demaille
Publikováno v:
Human Molecular Genetics. 2:1209-1213
In order to characterize the non-delta F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes in Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cyst
Autor:
J.P. Altieri, C. Guittard, Estelle Lopez, Mireille Claustres, M. Taulan, Céline René, Marie Desgeorges, M.-C. Romey, D. Baux
Publikováno v:
Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2007, 361 (3), pp.775-81. ⟨10.1016/j.bbrc.2007.07.091⟩
Biochemical and Biophysical Research Communications, Elsevier, 2007, 361 (3), pp.775-81. ⟨10.1016/j.bbrc.2007.07.091⟩
International audience; Growing evidences show that functionally relevant polymorphisms in various promoters alter both transcriptional activity and affinities of existing protein-DNA interactions, and thus influence disease progression in humans. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888c96e2a2838c08c34879b3c9470a35
https://www.hal.inserm.fr/inserm-00305437
https://www.hal.inserm.fr/inserm-00305437
Autor:
A de Meeus, C. Guittard, Jacques Demaille, Mireille Claustres, Marie Desgeorges, Soukeyna Carles
Publikováno v:
Journal of Medical Genetics. 35:594-596
Congenital bilateral absence of the vas deferens (CBAVD) is a cause of male sterility mostly resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The most common defect is the 5T variant at the branch/acceptor site of
Autor:
C. Guittard, Jacques Loiselet, Mireille Claustres, Marie Desgeorges, Soukeyna Carles, André Mégarbané, Jacques Demaille
Publikováno v:
Human genetics. 100(2)
Cystic fibrosis (CF) is thought to be rare among the Arab populations from the Middle East and little data have been reported so far. We have studied a sample of 20 families living in Lebanon for several generations and who have at least one child wi
Publikováno v:
Human genetics. 98(3)
In order to contribute to a better understanding of the dispersion of cystic fibrosis (CF) mutations in the South of France, seven diallelic and three multiallelic markers [three upstream of the cystic fibrosis transmembrane conductance regulator (CF
Publikováno v:
Human genetics. 96(6)
We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This uncommon missense mutation