Zobrazeno 1 - 10
of 64
pro vyhledávání: '"I. Duguépéroux"'
Autor:
I. Duguépéroux, M De Braekeleer
Publikováno v:
European Respiratory Journal. 25:468-473
Most cystic fibrosis (CF) transmembrane receptor mutations are rare. The French CF Registry offers an opportunity to study the genotype-phenotype relationship of these rare alleles. Since 1992, 39 CF patients carrying one copy of the 3849+10kbC->T mu
Autor:
Michel Renouil, Marc De Braekeleer, Jean François Lesure, Gil Bellis, Hughes Flodrops, I. Duguépéroux
Publikováno v:
Journal of Cystic Fibrosis. 3:185-188
Background: The Reunion Island is a French administrative department located in the Indian Ocean between the islands of Madagascar and Mauritius. Its population is known to be at a high risk of cystic fibrosis (CF). Methods: Data concerning all CF pa
Autor:
B. Mercier, M De Braekeleer, Claude Férec, Martine Blayau, Isabelle Quéré, Joris Andrieux, Virginie Scotet, M.-P. Audrézet, I. Duguépéroux
Publikováno v:
Journal of Medical Genetics. 39:443-448
Cystic fibrosis (CF) is the commonest severe autosomal recessive disease that affects children in white populations, with an incidence varying from 1/2500 to 1/5000 (carrier rate 1/25 to 1/35).1 The disease, which is characterised by chronic pulmonar
Autor:
M. De Braekeleer, M.-P. Audrézet, Virginie Scotet, L. Lodé, C. Verlingue, I. Duguépéroux, Philippe Parent, M.-P. Moineau, Jean-Pierre Codet, B. Mercier, Claude Férec, Isabelle Quéré
Publikováno v:
Clinical Genetics. 59:42-47
Nowadays, most of the neonatal screening programs for cystic fibrosis (CF) combine the assay of immunoreactive trypsinogen (IRT) with the analysis of the most common mutations of the CFTR gene. The efficiency of this strategy is now well established,
Autor:
Virginie Scotet, Sébastien Schmitt, M.-P. Audrézet, I. Duguépéroux, I. Frachon, R. Bernard, Emmanuelle Génin, Martine Blayau, Gilles Rault, Claude Férec, Philippe Parent, C. L'Hostis
Publikováno v:
Journal of Cystic Fibrosis. 15:S37
Autor:
C. Thèze, C. Bareil, E. Girodon, Mireille Claustres, A. de Becdelièvre, F. Fresquet, V. Gaston, Alain Kitzis, I. Duguépéroux, Patricia Fergelot, Thierry Bienvenu, M.-P. Audrézet, M. des Georges, M.-C. Malinge, Guy Lalau, M.-P. Reboul, Eric Bieth, Claude Férec
Publikováno v:
Journal of Cystic Fibrosis. 11
Autor:
Michel Roussey, Gilles Rault, Claude Férec, Philippe Saliou, M.-P. Audrézet, Virginie Scotet, I. Duguépéroux
Publikováno v:
Journal of Cystic Fibrosis. 10
Objectives: 5−10% of CF patients are diagnosed as adults. They often present with non-classical CF and suffer a milder clinical course. We postulate an increased incidence of adult CF diagnoses. We sought to determine if the adult CF, diagnostic ch
Autor:
R. Michel, Virginie Scotet, V. Moisan-Petit, I. Duguépéroux, Gilles Rault, S. Ramel, Claude Férec, M.-P. Audrézet
Publikováno v:
Journal of Cystic Fibrosis. 9
Publikováno v:
Journal of Cystic Fibrosis. 8
Autor:
H. Journel, Martine Blayau, M.-P. Audrézet, Virginie Scotet, I. Duguépéroux, Claude Férec, Philippe Parent, Pierre Boisseau
Publikováno v:
Journal of Cystic Fibrosis. 6