V. Fressart

发表

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

Yves Coudière, Christian Dina, Laurence Faivre, 2012, Journal of the American College of Cardiology.

The genetics underlying acquired long QT syndrome: impact for genetic screening.

P. Schwartz, W. Shimizu, M. Horie, 2016, European heart journal.

Arrhythmic Risk in Long-QT Syndrome Polymorphism Acting as a Protective Modifier Against KCNQ 1 Identification of a

P. Schwartz, D. Trégouët, W. Shimizu, 2013 .

Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findings

Y. Lecarpentier, J. Hébert, R. Frank, 2012, Front. Physio..

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

E. Donal, P. Charron, F. Hidden‐Lucet, 2017, PloS one.

Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy

M. Komajda, B. Hainque, P. Charron, 2011, Heart.

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

J. Deharo, Y. Lecarpentier, P. Cosnay, 2010, Europace.

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.

L. Faivre, R. Frank, G. Fontaine, 2009, 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.

Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts

M. Komajda, E. Donal, S. Varnous, 2013, PloS one.

Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State

I. Denjoy, P. Chevalier, V. Fressart, 2020, CJC open.

Hemolysis indexes for biochemical tests and immunoassays on Roche analyzers: Determination of allowable interference limits according to different calculation methods

F. Lamari, G. Atlan, D. Monneret, 2015, Scandinavian journal of clinical and laboratory investigation.

Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.

S. Varnous, P. Charron, F. Gary, 2019, 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.

Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family

M. A. Shea, P. Guicheney, I. Denjoy, 2022, Circulation. Arrhythmia and electrophysiology.

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

P. Guicheney, N. Neyroud, I. Denjoy, 2021, Journal of personalized medicine.

Pregnancy and newborn outcomes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

P. Charron, F. Hidden‐Lucet, V. Fressart, 2018, International journal of cardiology.

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

S. Tezenas du Montcel, A. Toutain, C. Rooryck, 2020, Journal of clinical medicine.

Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

M. Komajda, E. Donal, P. Charron, 2013, 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.

Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights from Genetic Testing.

É. Marijon, P. Charron, I. Denjoy, 2020, Circulation. Genomic and precision medicine.

Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.

P. De Groote, P. Charron, D. Bonnet, 2012, International journal of cardiology.

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.

P. Itin, V. Drouin‐Garraud, C. Balmer, 2012, Swiss medical weekly.

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

R. Redon, E. Behr, D. Roden, 2013, Nature Genetics.

A novel gain‐of‐function mutation in SCN5A responsible for multifocal ectopic Purkinje‐related premature contractions

N. Neyroud, F. Hidden‐Lucet, F. Ader, 2020, Human mutation.

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.

F. Sacher, M. Haïssaguerre, V. Probst, 2013, 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.

Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State

I. Denjoy, P. Chevalier, V. Fressart, 2020, CJC open.

Novel SCN5A mutations in two families with “Brugada-like” ST elevation in the inferior leads and conduction disturbances

A. Leenhardt, P. Guicheney, I. Denjoy, 2013, Journal of Interventional Cardiac Electrophysiology.

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

P. Charron, P. Fornés, P. Richard, 2020, Open medicine.

SCN5A-related cardiac channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

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

J. Rendu, I. Denjoy, D. Bonnet, 2021, European heart journal. Case reports.

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

P. Schwartz, D. Trégouët, W. Shimizu, 2013, Circulation. Cardiovascular genetics.

Multifocal Ectopic Purkinje Premature Contractions : a new SCN 5 A-related cardiac channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

Type 2 short QT syndrome and vestibular dysfunction: mirror of the Jervell and Lange-Nielsen syndrome?

D. Bonnet, C. Chabbert, F. Extramiana, 2014, International journal of cardiology.

745High risk of heart failure in desmoglein-2 mutation carriers in arrhythmogenic right ventricular dysplasia/cardiomyopathy

J. Deharo, P. Cosnay, E. Donal, 2017 .

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Dan M Roden, Beverley Balkau, Pierre Lindenbaum, 2013, Nature Genetics.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

S. Tezenas du Montcel, W. Shimizu, E. Schulze-Bahr, 2015, European Journal of Human Genetics.

Female predominance and transmission distortion in the long-QT syndrome.

S. Priori, M. Imboden, C. Napolitano, 2006, The New England journal of medicine.

MOG1: A New Susceptibility Gene for Brugada Syndrome

A. Leenhardt, V. Probst, J. Schott, 2011, Circulation. Cardiovascular genetics.

Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: Is sporting disqualification really necessary?

Mathew G. Wilson, P. Charron, I. Denjoy, 2012, British Journal of Sports Medicine.

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

A. Bozio, B. Hainque, P. Guicheney, 2004, Journal of the American College of Cardiology.

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

J. Deharo, P. Cosnay, E. Donal, 2014, Heart rhythm.

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Céline Marionneau, F. Charpentier, Y. Péréon, 2016, Front. Pharmacol..

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Céline Marionneau, F. Charpentier, Y. Péréon, 2016, Front. Pharmacol..

Hypogonadism as a Reversible Cause of Torsades de Pointes in Men.

D. Roden, F. Badilini, C. Shaffer, 2018, Circulation.

Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.

J. Schläpfer, P. Guicheney, J. Rougier, 2005, Cardiovascular research.

Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A -Related Cardiac Channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

P. Maison-Blanche, G. Jondeau, A. Leenhardt, 2018, Scientific Reports.

SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups

J. Skinner, E. Behr, P. Schwartz, 2018, European heart journal.

Malignant response to ajmaline challenge in SCN5A mutation carriers: experience from a large familial study.

J. Deharo, J. Hébert, P. Charron, 2014, International journal of cardiology.

ECG descriptors of ventricular repolarization are associated with cardiac events in a gene-specific manner in long QT syndrome patients

F. Badilini, P. Maison-Blanche, A. Leenhardt, 2022, EP Europace.

Images in cardiovascular medicine. Fortuitous discovery of partial Uhl anomaly in a male adult.

Y. Lecarpentier, D. Le Guludec, J. Hébert, 2010, Circulation.

A novel genetic variant in the transcription factor Islet‐1 exerts gain of function on myocyte enhancer factor 2C promoter activity

M. Komajda, L. Gouya, P. Charron, 2013, European journal of heart failure.

Contraction delay of the RV outflow tract in patients with Brugada syndrome is dependent on the spontaneous ST-segment elevation pattern.

A. Leenhardt, L. Sarda-Mantel, D. Le Guludec, 2011, Heart rhythm.

High risk of heart failure associated with desmoglein‐2 mutations compared to plakophilin‐2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia

J. Deharo, P. Cosnay, E. Donal, 2019, European journal of heart failure.

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

A. Lazarus, P. Laforêt, B. Eymard, 2013, Archives of cardiovascular diseases.

Mexiletine Differentially Restores the Trafficking Defects Caused by Two Brugada Syndrome Mutations

C. Schmied, V. Fressart, M. Chahine, 2012, Front. Pharmacol..

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

P. Maison-Blanche, G. Jondeau, A. Leenhardt, 2018, Scientific Reports.

Response to the Letter by Kattygnarath et al

A. Leenhardt, V. Probst, J. Schott, 2011 .

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.

B. Hainque, P. Guicheney, I. Denjoy, 2007, 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.

A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.

Mohamed Chahine, P. Guicheney, V. Fressart, 2003, Journal of molecular and cellular cardiology.

Correlations Between Endocardial Voltage Mapping, Diagnosis, and Genetics in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy.

P. Maury, V. Fressart, E. Gandjbakhch, 2022, The American journal of cardiology.

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

L. Mestroni, M. P. van den Berg, D. Judge, 2023, Journal of cardiovascular translational research.

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

Daniel C Bartos, A. Moss, K. Campbell, 2012, Biochemistry.

R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

Michael John Ackerman, Craig T. January, Brian P. Delisle, 2011, Heart rhythm.

Clinical Presentation and Heart Failure in Children With Arrhythmogenic Cardiomyopathy.

D. Khraiche, D. Bonnet, V. Fressart, 2022, Circulation. Arrhythmia and electrophysiology.

Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: Is sporting disqualification really necessary?

Mathew G. Wilson, P. Charron, I. Denjoy, 2012, British Journal of Sports Medicine.

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

F. Charpentier, Y. Coudière, L. Faivre, 2012, Journal of the American College of Cardiology.

Multifocal Ectopic Purkinje-related Premature Contractions a New Scn5a-related Cardiac Channelopathy

F. Charpentier, Y. Coudière, C. Thauvin-Robinet, 2022 .

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

J. Deharo, P. Cosnay, E. Donal, 2014, Heart rhythm.

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

J. Deharo, Y. Lecarpentier, P. Cosnay, 2010, 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.

Correlations Between Endocardial Voltage Mapping, Diagnosis, and Genetics in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy.

P. Maury, V. Fressart, E. Gandjbakhch, 2023, The American journal of cardiology.

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.

C. Rooryck, J. Pasquié, F. Ader, 2024, Heart rhythm.

Type 3 long QT syndrome: is the effectiveness of treatment with beta-blockers population-specific?

P. Maison-Blanche, A. Leenhardt, V. Probst, 2023, Heart rhythm.