Lista de obras - Hervé Le Marec - Dominio Público Uruguay

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0224 : Mental stress unmasked new phenotype of sudden cardiac death related to adrenalin dependent prolongation of the QT interval

14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5

artículo científico publicado en 2006

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2

artículo científico publicado en 2004

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Brugada syndrome: Diagnosis, risk stratification and management

artículo científico publicado en 2017

Brugada syndrome: report of the second consensus conference.

artículo científico publicado en 2005

Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease

artículo científico publicado en 2003

Clinical aspects and prognosis of Brugada syndrome in children

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

artículo científico publicado en 2008

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

scientific article published on 10 June 2016

Effect of baroreflex stimulation using phenylephrine injection on ST segment elevation and ventricular arrhythmia-inducibility in Brugada syndrome patients

artículo científico publicado en 2009

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

scholarly article published in Nature Genetics

Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects

artículo científico publicado en 2011

Fine-scale human genetic structure in Western France

artículo científico publicado en 2014

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

artículo científico publicado en 2015

Genetics of syndromic and non-syndromic mitral valve prolapse

artículo científico publicado en 2018

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

artículo científico

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

artículo científico publicado en 2011

Identification of large families in early repolarization syndrome

artículo científico publicado en 2013

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

artículo científico publicado en 2016

MOG1: a new susceptibility gene for Brugada syndrome

artículo científico publicado en 2011

Mitral valve disease--morphology and mechanisms

artículo científico publicado en 2015

Na+ channel mutation leading to loss of function and non-progressive cardiac conduction defects

artículo científico publicado en 2003

Novel Brugada SCN5A Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads ⬇️

artículo científico publicado el 1 de febrero de 2003

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study

artículo científico publicado en 2006

Polymorphisms associated with ventricular tachyarrhythmias: rationale, design, and endpoints of the 'diagnostic data influence on disease management and relation of genomics to ventricular tachyarrhythmias in implantable cardioverter/defibrillator p

artículo científico publicado en 2010

Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study

artículo científico publicado en 2016

Response to the Letter by Kattygnarath et al

Risk Stratification and Therapeutic Approach in Brugada Syndrome

artículo científico publicado en 2012

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

artículo científico publicado en 2009

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

artículo científico publicado en 2011

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

artículo científico publicado en 2016

The psychological impact of implantable cardioverter defibrillator implantation on Brugada syndrome patients ⬇️

artículo científico publicado el 21 de marzo de 2011

Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation

artículo científico publicado en 2005

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

artículo científico publicado en 2010

Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel

artículo científico publicado en 2009

Lista de obras de Hervé Le Marec

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0224 : Mental stress unmasked new phenotype of sudden cardiac death related to adrenalin dependent prolongation of the QT interval

14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

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

Brugada syndrome: Diagnosis, risk stratification and management

Brugada syndrome: report of the second consensus conference.

Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

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

Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease

Clinical aspects and prognosis of Brugada syndrome in children

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

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

Effect of baroreflex stimulation using phenylephrine injection on ST segment elevation and ventricular arrhythmia-inducibility in Brugada syndrome patients

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

Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects

Fine-scale human genetic structure in Western France

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Genetics of syndromic and non-syndromic mitral valve prolapse

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Identification of large families in early repolarization syndrome

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

MOG1: a new susceptibility gene for Brugada syndrome

Mitral valve disease--morphology and mechanisms

Na+ channel mutation leading to loss of function and non-progressive cardiac conduction defects

Novel Brugada SCN5A Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads ⬇️

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study

Polymorphisms associated with ventricular tachyarrhythmias: rationale, design, and endpoints of the 'diagnostic data influence on disease management and relation of genomics to ventricular tachyarrhythmias in implantable cardioverter/defibrillator p

Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study

Response to the Letter by Kattygnarath et al

Risk Stratification and Therapeutic Approach in Brugada Syndrome

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

The psychological impact of implantable cardioverter defibrillator implantation on Brugada syndrome patients ⬇️

Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel