Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy מאת Marie-A. Chaix, MD, MSc, Tamara T. Koopmann, PhD, Philippe Goyette, PhD, Azadeh Alikashani, MSc, Frédéric Latour, MSc, Meena Fatah, HBSc, Robert M. Hamilton, MD, John D. Rioux, PhD

קבל טקסט מלא

Angiopoietin-like 2 is essential to aortic valve development in mice מאת Pauline Labbé, Victoria Munoz Goyette, Nathalie Thorin-Trescases, Louis Villeneuve, Ines Desanlis, Constance Delwarde, Yan-Fen Shi, Cécile Martel, Carol Yu, Azadeh Alikashani, Maya Mamarbachi, Frédéric Lesage, Samuel Mathieu, Jean-Claude Tardif, Patrick Mathieu, Marie Kmita, Éric Thorin

קבל טקסט מלא

Functional screen of inflammatory bowel disease genes reveals key epithelial functions מאת Jessy Carol Ntunzwenimana, Gabrielle Boucher, Jean Paquette, Hugues Gosselin, Azadeh Alikashani, Nicolas Morin, Claudine Beauchamp, Louise Thauvette, Marie-Ève Rivard, Frédérique Dupuis, Sonia Deschênes, Sylvain Foisy, Frédéric Latour, Geneviève Lavallée, Mark J. Daly, Ramnik J. Xavier, the iGenoMed Consortium, Guy Charron, Philippe Goyette, John D. Rioux

קבל טקסט מלא

TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT מאת Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie‐A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer‐Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine AF de Vries, Léna Rivard, Arthur AM Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al‐Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier

קבל טקסט מלא

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis. מאת Mélissa Beaudoin, Philippe Goyette, Gabrielle Boucher, Ken Sin Lo, Manuel A Rivas, Christine Stevens, Azadeh Alikashani, Martin Ladouceur, David Ellinghaus, Leif Törkvist, Gautam Goel, Caroline Lagacé, Vito Annese, Alain Bitton, Jakob Begun, Steve R Brant, Francesca Bresso, Judy H Cho, Richard H Duerr, Jonas Halfvarson, Dermot P B McGovern, Graham Radford-Smith, Stefan Schreiber, Philip L Schumm, Yashoda Sharma, Mark S Silverberg, Rinse K Weersma, Quebec IBD Genetics Consortium, NIDDK IBD Genetics Consortium, International IBD Genetics Consortium, Mauro D'Amato, Severine Vermeire, Andre Franke, Guillaume Lettre, Ramnik J Xavier, Mark J Daly, John D Rioux

קבל טקסט מלא