Search - Inserm - Institut national de la santé et de la recherche médicale Access content directly

Filter your results

19 Results
authFullName_s : Isabelle Denjoy

Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser

Alice Maltret , Fatima Azzahrae Benaich , John Rendu , Véronique Fressart , Nathalie Roux-Buisson , et al.
European Heart Journal. Case Reports, 2021, 5 (10), pp.4743-4755. ⟨10.1093/ehjcr/ytab393⟩
Journal articles hal-04006403v1
Image document

Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.

Meiso Hayashi , Isabelle Denjoy , Fabrice Extramiana , Alice Maltret , Nathalie Roux Buisson , et al.
Circulation, 2009, 119 (18), pp.2426-34. ⟨10.1161/CIRCULATIONAHA.108.829267⟩
Journal articles inserm-00410301v1
Image document

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Celine Bordet , Sandrine Brice , Carole Maupain , Estelle Gandjbakhch , Bertrand Isidor , et al.
Journal of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal articles hal-02882035v1

Salbutamol Worsens the Autonomic Nervous System Dysfunction of Children With Sickle Cell Disease

Plamen Bokov , Houmam El Jurdi , Isabelle Denjoy , Claudine Peiffer , Noria Medjahdi , et al.
Frontiers in Physiology, 2020, 11 (3), pp.256-266. ⟨10.3389/fphys.2020.00031⟩
Journal articles hal-04006390v1

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

Malorie Blancard , Zahia Touat-Hamici , Yuriana Aguilar-Sanchez , Liheng Yin , Guy Vaksmann , et al.
Journal of Personalized Medicine, 2021, 11 (6), pp.579. ⟨10.3390/jpm11060579⟩
Journal articles hal-03342611v1
Image document

Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser

Alice Maltret , Fatima Azzahrae Benaich , John Rendu , Véronique Fressart , Nathalie Roux-Buisson , et al.
European Heart Journal. Case Reports, 2021, 5 (10), ⟨10.1093/ehjcr/ytab393⟩
Journal articles hal-03417239v1
Image document

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.

Nathalie Roux-Buisson , Grégory Egéa , Isabelle Denjoy , Pascale Guicheney , Joel Lunardi
EP-Europace, 2011, 13 (1), pp.130-2. ⟨10.1093/europace/euq331⟩
Journal articles inserm-00639628v1
Image document

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

Malorie Blancard , Zahia Touat-Hamici , Yuriana Aguilar-Sanchez , Liheng Yin , Guy Vaksmann , et al.
Journal of Personalized Medicine, 2021, 11 (6), pp.579. ⟨10.3390/jpm11060579⟩
Journal articles hal-03278104v1
Image document

Deep learning analysis of ECG for risk prediction of drug-induced arrhythmias and diagnosis of long QT syndrome

Edi Prifti , Ahmad Fall , Giovanni Davogustto , Alfredo Pulini , Isabelle Denjoy , et al.
European Heart Journal, 2021, 42 (38), pp.3948-3961. ⟨10.1093/eurheartj/ehab588⟩
Journal articles hal-03477972v1

Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis

Flavie Ader , Elodie Surget , Philippe Charron , Alban Redheuil , Amir Zouaghi , et al.
Circulation: Genomic and Precision Medicine, 2020, 13 (4), pp.e002744. ⟨10.1161/CIRCGEN.119.002744⟩
Journal articles inserm-03996719v1
Image document

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

Yanushi D Wijeyeratne , Michael Tanck , Yuka Mizusawa , Velislav Batchvarov , Julien Barc , et al.
Circulation: Genomic and Precision Medicine, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩
Journal articles hal-03099541v1

Gender differences in patients with Brugada syndrome and arrhythmic events: Data from a survey on arrhythmic events in 678 patients

Anat Milman , Jean-Baptiste Gourraud , Antoine Andorin , Pieter Postema , Frederic Sacher , et al.
Heart Rhythm, 2018, 15 (10), pp.1457-1465. ⟨10.1016/j.hrthm.2018.06.019⟩
Journal articles hal-04073990v1
Image document

A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes

Zahia Touat-Hamici , Malorie Blancard , Ruifang Ma , Lianyun Lin , Yasmine Iddir , et al.
Scientific Reports, 2021, 11 (1), pp.5243. ⟨10.1038/s41598-021-84373-9⟩
Journal articles hal-03162735v1
Image document

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

Nathalie Roux-Buisson , John Rendu , Isabelle Denjoy , Pascale Guicheney , Alice Goldenberg , et al.
Human Mutation, 2011, 32 (9), pp.995-999 ⟨10.1002/humu.21537⟩
Journal articles istex inserm-00644146v1
Image document

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Najim Lahrouchi , Rafik Tadros , Lia Crotti , Yuka Mizusawa , Pieter G Postema , et al.
Circulation, 2020, 142, pp.324 - 338. ⟨10.1161/circulationaha.120.045956⟩
Journal articles inserm-04021339v1
Image document

The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.

Miyuki Hayashi , Isabelle Denjoy , Meiso Hayashi , Fabrice Extramiana , Alice Maltret , et al.
EP-Europace, 2012, 14 (9), pp.1344-51. ⟨10.1093/europace/eus031⟩
Journal articles inserm-00905386v1
Image document

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Nathalie Roux-Buisson , Marine Cacheux , Anne Fourest-Lieuvin , J. Fauconnier , Julie Brocard , et al.
Human Molecular Genetics, 2012, 21 (12), pp.2759-67. ⟨10.1093/hmg/dds104⟩
Journal articles inserm-00763211v1
Image document

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

Barbara Oliveira-Mendes , Sylvain Feliciangeli , Mélissa Ménard , Frank Chatelain , Malak Alameh , et al.
Clinical and Translational Medicine, 2021, 11 (11), ⟨10.1002/ctm2.609⟩
Journal articles hal-03797256v1
Image document

Clinical and Translational Physiology, a section of the journal Frontiers in Physiology

Plamen Bokov , Houmam El Jurdi , Isabelle Denjoy , Claudine Peiffer , Noria Medjahdi , et al.
Frontiers in Physiology, 2020, 11, pp.31. ⟨10.3389/fphys.2020.00031⟩
Journal articles hal-02947866v1