Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Soukeyna Carles"'
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:
Agathe Roubertie, C. Guittard, Laurent Cavalier, Bernard Echenne, Soukeyna Carles, Mireille Claustres, Sylvie Tuffery-Giraud, Patrick Calvas, Philippe Coubes
Editor—Torsion dystonia is a movement disorder characterised by sustained involuntary muscle contractions, frequently causing twisting and repetitive movements or abnormal postures.1 Primary torsion dystonia (PTD) occurs either in a familial or spo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ae27d95fa546606ca5c0953e44d1426
https://europepmc.org/articles/PMC1734733/
https://europepmc.org/articles/PMC1734733/
Autor:
G Pageaux, D Larrey, Soukeyna Carles, M. Des Georges, Mireille Claustres, Nathalie Pallares-Ruiz, C. Guittard
Editor,—In one of two recently published studies which looked at a link between mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and idiopathic pancreatitis,1 2 Cohn et al estimated that 37% of a cohort of 27 patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e4af763a139dceec30ee6ef2d5634c5
https://europepmc.org/articles/PMC1727797/
https://europepmc.org/articles/PMC1727797/
Autor:
Marie des Georges, Mireille Claustres, Soukeyna Carles, F. Arnal, C. Guittard, Nathalie Pallares-Ruiz, Claude Humeau
Publikováno v:
Human reproduction (Oxford, England). 14(12)
Based on the analysis of the most frequent mutations responsible for cystic fibrosis (CF), a higher than expected frequency of CF mutations was recently reported in men with infertility due to reduced sperm quality. To further document whether this c
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
Autor:
Jacques Demaille, C. Guittard, Mireille Claustres, Marie Desgeorges, A de Meeus, Soukeyna Carles
Publikováno v:
Human Mutation. 11:480-480
Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interes
Autor:
Mireille Claustres, Marie Desgeorges, Soukeyna Carles, Jacques Demaille, C. Guittard, Anne de Meeus
Publikováno v:
Human Mutation. 11:480-480
Congenital bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interes
Autor:
Carolyn J. Padoa, Thilo Dörk, Milan Macek, Manfred Stuhrmann, El-Harith A. El-Harith, Soukeyna Carles, Michèle Ramsay, Jörg Schmidtke, Maria Tzetis, Garry R. Cutting, Michelle Egan, Emmanuel Kanavakis, Mireille Claustres
Publikováno v:
The American Journal of Human Genetics. (2):656-662
Part of this work was supported by an Alexander von Humboldt Foundation grant (to E.-H.A.E.-H.); by IGA MZ CR grants 2899-5, 3526-3, and 4124-3, GA CR grant 301/66/1606; and Barrande grant 970157 (all to M.M.).
Autor:
C. Guittard, Mireille Claustres, R. Thiart, Marie Desgeorges, T. De Ravel, C. A. Kitazos, A. T. R. Westwood, Soukeyna Carles, Michèle Ramsay, A Goldman
Publikováno v:
Scopus-Elsevier
Cystic fibrosis (CF) is thought to be rare in the black populations of Africa who have minimal white admixture. Only a few cases have been reported but have not been studied at the molecular level. We report the detection of CFTR mutations in three s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb1cecd6748b3d3dcc3540bc43d9ed7
http://www.scopus.com/inward/record.url?eid=2-s2.0-19244364425&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-19244364425&partnerID=MN8TOARS