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Isabelle Denjoy

Showing results (71-80 of 116) with videos related to

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Biochemistry|October 25, 2012
High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeationDon E Burgess, Daniel C Bartos, Allison R Reloj, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunctionHideki Itoh, Myriam Berthet, Véronique Fressart, et al.
Circulation. Cardiovascular Genetics|March 31, 2011
MOG1: a new susceptibility gene for Brugada syndromeDarouna Kattygnarath, Svetlana Maugenre, Nathalie Neyroud, et al.
Circulation|November 7, 2007
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratificationLia Crotti, Carla Spazzolini, Peter J Schwartz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2022
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathiesMatthew J O'Neill, Luca Sala, Isabelle Denjoy, et al.
European Heart Journal|December 31, 2015
The genetics underlying acquired long QT syndrome: impact for genetic screeningHideki Itoh, Lia Crotti, Takeshi Aiba, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|December 24, 2025
SPARC: a Structural Pathogenicity Algorithm for Risk Classification of hERG VariantsFrank C Chatelain, Barbara Ribeiro de Oliveira, Guillaume Grataloup, et al.
European Heart Journal|September 10, 2021
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 regionPeter J Schwartz, Cristina Moreno, Maria-Christina Kotta, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|February 13, 2024
Insights into adherence to medication and lifestyle recommendations in an international cohort of patients with catecholaminergic polymorphic ventricular tachycardiaPuck J Peltenburg, Lieke M van den Heuvel, Dania Kallas, et al.
Basic Research in Cardiology|October 25, 2014
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutationsDelphine M Béziau, Julien Barc, Thomas O'Hara, et al.
Pageof 12

Showing results (71-80 of 116) with videos related to

Sort By:
Pageof 12
Biochemistry|October 25, 2012
High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeationDon E Burgess, Daniel C Bartos, Allison R Reloj, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunctionHideki Itoh, Myriam Berthet, Véronique Fressart, et al.
Circulation. Cardiovascular Genetics|March 31, 2011
MOG1: a new susceptibility gene for Brugada syndromeDarouna Kattygnarath, Svetlana Maugenre, Nathalie Neyroud, et al.
Circulation|November 7, 2007
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratificationLia Crotti, Carla Spazzolini, Peter J Schwartz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2022
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathiesMatthew J O'Neill, Luca Sala, Isabelle Denjoy, et al.
European Heart Journal|December 31, 2015
The genetics underlying acquired long QT syndrome: impact for genetic screeningHideki Itoh, Lia Crotti, Takeshi Aiba, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|December 24, 2025
SPARC: a Structural Pathogenicity Algorithm for Risk Classification of hERG VariantsFrank C Chatelain, Barbara Ribeiro de Oliveira, Guillaume Grataloup, et al.
European Heart Journal|September 10, 2021
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 regionPeter J Schwartz, Cristina Moreno, Maria-Christina Kotta, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|February 13, 2024
Insights into adherence to medication and lifestyle recommendations in an international cohort of patients with catecholaminergic polymorphic ventricular tachycardiaPuck J Peltenburg, Lieke M van den Heuvel, Dania Kallas, et al.
Basic Research in Cardiology|October 25, 2014
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutationsDelphine M Béziau, Julien Barc, Thomas O'Hara, et al.
Pageof 12