Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Claude Prévost"'
Publikováno v:
American Journal of Medical Genetics Part A. 167:708-714
Myotonic dystrophy type 1 is the most common form of adult muscular dystrophy and has the world's highest prevalence in the Saguenay-Lac-St-Jean region, due to a founder effect. This autosomal dominant disorder results from an unstable CTG repeat exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08a2615fda31b718dd15e463a420b666
https://doi.org/10.1002/ajmg.a.36950
https://doi.org/10.1002/ajmg.a.36950
Autor:
Marie-Claude Prévost, Daniel Spooner
Publikováno v:
Le travail humain. 77:207-230
Dans cette etude de cas, des idees de produits et services innovateurs sont proposees a un client en utilisant une approche d’ergonomie prospective. Cette approche differe des approches traditionnelles ou le travail se fait dans le cadre specifique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c992c7fd94f698dd343bf3b66e56ab14
https://doi.org/10.3917/th.773.0207
https://doi.org/10.3917/th.773.0207
Autor:
Claude Prévost, Michel Apel-Muller
Publikováno v:
La Pensée. :5-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::364eae545d1c8bc553ae981174977b97
https://doi.org/10.3917/lp.373.0005
https://doi.org/10.3917/lp.373.0005
Autor:
Peter S. McPherson, Claude Prévost, J.P. Bouchard, Nicolas Dupré, Jean Mathieu, Antoine Duquette, J. Demers-Lamarche, I. Thiffault, Marie-Josée Dicaire, Geneviève Bernard, Laura Montermini, Martine Tétreault, A. Montpetit, Bernard Brais, Roxanne Larivière, Andrea Richter, Kalle Gehring, Jocelyne Mercier, K.N. Huang, Grant A. Mitchell
Publikováno v:
Europe PubMed Central
Background:The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54672a4123bf1d649bc347160316d42a
https://doi.org/10.1017/s0317167100012968
https://doi.org/10.1017/s0317167100012968
Autor:
Louis Richer, Luc Laberge, Suzanne Veillette, Julie Auclair, Stéphane Jean, Michel Perron, Michaël Gaudreault, Claude Prévost, Jean Mathieu
Publikováno v:
Public Health Genomics. 13:424-430
Aims: The goal was to assess clinical and genetic knowledge and attitudes in patients affected by myotonic dystrophy type 1 (DM1). Methods: Two hundred patients with molecular confirmation of the diagnosis of DM1 completed a multi-choice questionnair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddfe90683144ea0d8559f375ffe1b1fb
https://doi.org/10.1159/000316238
https://doi.org/10.1159/000316238
Autor:
Claude Prévost, Peter Durie, Anne-Marie Madore, Julian Zielenski, Catherine Laprise, Ruslan Dorfman, Chelsea Taylor
Publikováno v:
Genetics in Medicine. 10:201-206
Purpose: Saguenay–Lac-Saint-Jean is a region located in the northeastern part of the Province of Quebec, Canada, and is characterized by a founder effect. In this region, it has been documented that the incidence of cystic fibrosis reached 1/902 li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4874be357874cc69405b110ada4aae1a
https://doi.org/10.1097/gim.0b013e318164cb1c
https://doi.org/10.1097/gim.0b013e318164cb1c
Autor:
Carmen Tremblay, Suzanne Veillette, Jean Mathieu, Claude Prévost, Josée Villeneuve, Claude Laberge, Marc Tremblay, Julie Auclair, Michel Perron
Publikováno v:
American Journal of Medical Genetics Part A. :68-77
In the Saguenay-Lac-Saint-Jean region (Quebec, Canada), a predictive DNA-testing program for myotonic dystrophy type 1 (DM1) has been available as a clinical service since 1988. From 1 to 12 years (median, 5 years) after receiving predictive testing,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a745841e8cd01584b327fc561ad482b
https://doi.org/10.1002/ajmg.a.20560
https://doi.org/10.1002/ajmg.a.20560
Autor:
Andrea Richter, Jocelyne Mercier, Jean-Pierre Bouchard, Jean Mathieu, Claude Prévost, James C. Engert
Publikováno v:
Genetic Testing. 5:255-259
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS; MIM SACS 270550) is frequent in northeastern Québec. Two causal mutations have been identified in the 11.7-kb single exon sacsin gene by sequence-based analyses. Mutation g.6594delT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::018b80f24f44cd2c934e693c2c646a69
https://doi.org/10.1089/10906570152742326
https://doi.org/10.1089/10906570152742326
Publikováno v:
Toxicology and Applied Pharmacology. 164:176-183
Acrolein, an unsaturated aliphatic aldehyde, is a potent respiratory irritant. We have previously observed that acrolein administered ex vivo to isolated airways alters subsequent airway responsiveness to muscarinic agonists in terms of both mechanic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a0c214ef4c8573f3eb11fa2337e88ee
https://doi.org/10.1006/taap.1999.8879
https://doi.org/10.1006/taap.1999.8879
Autor:
Patrice Mollard, Eric Maury, Nathalie C. Guérineau, Marie-Claude Prévost, Hugues Chap, Cécile Comminges
Publikováno v:
FEBS Letters. 466:228-232
We previously reported that endothelin-1 or platelet-derived growth factor promoted in aortic smooth muscle cells a rapid hydrolysis of 1-O-alkyl-2-acyl-sn-glycero-3-phosphoethanolamine (alkyl-PE) which was immediately converted into 1-O-alkyl-2,3-di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6123d54991c77f8061e55298ee55ef1e
https://doi.org/10.1016/s0014-5793(99)01766-4
https://doi.org/10.1016/s0014-5793(99)01766-4