Lista de obras - Vincent Probst - Dominio Público Uruguay

163 Genetic Modifiers in Carriers of the SCN5A E1784K Mutation with Variable Phenotypic Expression - Long QT3 / Brugada Syndrome Overlap Disease

artículo científico publicado en 2014

2018 ESC Guidelines for the diagnosis and management of syncope

article by Michele Brignole et al published 19 March 2018 in European Heart Journal

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

artículo científico publicado en 2012

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

artículo científico publicado en 2021

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

Age at diagnosis of Brugada syndrome: Influence on clinical characteristics and risk of arrhythmia

scientific article published on 29 November 2019

Age of First Arrhythmic Event in Brugada Syndrome: Data From the SABRUS (Survey on Arrhythmic Events in Brugada Syndrome) in 678 Patients

artículo científico publicado en 2017

Ajmaline challenge: to stop or not to stop...

artículo científico publicado en 2009

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation

scientific article published in Scientific Reports

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

artículo científico publicado en 2009

Are women with severely symptomatic brugada syndrome different from men?

artículo científico publicado en 2008

Benign vs. malignant inferolateral early repolarization: Focus on the T wave

artículo científico publicado en 2015

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Brugada syndrome: Keep an eye on the electrocardiogram

artículo científico publicado en 2018

Brugada syndrome: where are you?

artículo científico publicado en 2009

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene

scientific article published on 01 November 2016

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

artículo científico publicado en 2013

Cardiac conduction defects associate with mutations in SCN5A

artículo científico publicado en 1999

Cardiac remote monitoring in France.

artículo científico publicado en 2014

Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study

artículo científico publicado en 2011

Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy

artículo científico publicado en 2009

Characterization and Management of Arrhythmic Events in Young Patients With Brugada Syndrome

scientific article published on 01 April 2019

Circulating PCSK9 levels in acute coronary syndrome: Results from the PC-SCA-9 prospective study

artículo científico publicado en 2017

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

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Correlation of intracardiac electrogram with surface electrocardiogram in Brugada syndrome patients

artículo científico publicado en 2013

Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype

scientific article published on 01 March 2003

Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

artículo científico publicado en 2018

Differential calcium sensitivity in NaV 1.5 mixed syndrome mutants

artículo científico publicado en 2017

Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org)

artículo científico publicado en 2009

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

Early Repolarization Disease.

artículo científico publicado en 2010

Electropharmacological characterization of cardiac repolarization in German shepherd dogs with an inherited syndrome of sudden death: abnormal response to potassium channel blockers

scientific article published on 01 September 2000

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

artículo científico publicado en 2020

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

article

Ethnic differences in patients with Brugada syndrome and arrhythmic events: New insights from Survey on Arrhythmic Events in Brugada Syndrome

artículo científico publicado en 2019

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

artículo científico publicado en 2017

Familial aggregation of calcific aortic valve stenosis in the western part of France

scientific article published on 06 February 2006

Fever-Related Arrhythmic Events in the Multicenter Survey on Arrhythmic Events in Brugada Syndrome (SABRUS).

artículo científico publicado en 2018

Fine-scale human genetic structure in Western France

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

artículo científico publicado en 2015

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

artículo científico publicado en 2002

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

artículo científico publicado en 2003

Heart rate variability and repolarization characteristics in symptomatic and asymptomatic Brugada syndrome.

artículo científico publicado en 2016

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

scientific article published on 19 June 2012

Identification of large families in early repolarization syndrome

artículo científico publicado en 2013

Idiopathic Ventricular Fibrillation: Role of Purkinje System and Microstructural Myocardial Abnormalities

scientific article published on 01 June 2020

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome

artículo científico publicado en 2016

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

artículo científico publicado en 2016

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

article

Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome.

artículo científico publicado en 2015

Inherited progressive cardiac conduction disorders

artículo científico publicado en 2015

Insufficiency of electrocardiogram alone in predicting infrahisian abnormalities in patients with type 1 myotonic dystrophy

artículo científico publicado en 2014

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

artículo científico publicado en 2012

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

scientific article published on 11 May 2018

Long-term follow-up of patients with short QT syndrome

artículo científico publicado en 2011

Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome

artículo científico publicado en 2005

MOG1: a new susceptibility gene for Brugada syndrome

artículo científico publicado en 2011

Mitral valve disease--morphology and mechanisms

artículo científico publicado en 2015

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

artículo científico publicado en 2013

Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.

artículo científico publicado en 2006

Monomorphic ventricular tachycardia in patients with Brugada syndrome: A multicenter retrospective study.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

artículo científico publicado en 2006

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

artículo científico publicado en 2015

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study-part 2.

artículo científico publicado en 2013

PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome?

artículo científico publicado en 2014

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block

scientific article published on 16 August 2012

Practical Instructions for the 2018 ESC Guidelines for the diagnosis and management of syncope

artículo científico publicado en 2018

Predictors for short-term progressive heart failure death in New York Heart Association II patients implanted with a cardioverter defibrillator—the EVADEF study

artículo científico publicado en 2010

Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome

artículo científico publicado en 2013

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

article

Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome

artículo científico publicado en 2008

Prevalence, characteristics, and prognosis role of type 1 ST elevation in the peripheral ECG leads in patients with Brugada syndrome.

artículo científico publicado en 2013

Profile of Brugada Syndrome Patients Presenting with Their First Documented Arrhythmic Event. Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS).

artículo científico publicado en 2018

Prognostic significance of fever-induced Brugada syndrome.

artículo científico publicado en 2016

Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis

artículo científico publicado en 2016

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

artículo científico publicado en 2017

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

artículo científico publicado en 2006

Quinidine therapy in children affected by Brugada syndrome: are we far from a safe alternative?

artículo científico publicado en 2009

Remote implantable cardioverter defibrillator monitoring in a Brugada syndrome population

scientific article published on 14 February 2009

Reply to the Editor--PQ-segment depression in short QT syndrome patients: a novel marker for diagnosing short QT syndrome?

artículo científico publicado en 2014

Reply to the Editor-Brugada syndrome is not an ECG.

artículo científico publicado en 2016

Response to intravenous ajmaline: a retrospective analysis of 677 ajmaline challenges.

artículo científico publicado en 2009

Response to the Letter by Kattygnarath et al

Risk of ventricular arrhythmia in patients with myocardial infarction and non-obstructive coronary arteries and normal ejection fraction

scientific article published on March 2017

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

artículo científico publicado en 2015

Role of electrophysiological studies in predicting risk of ventricular arrhythmia in early repolarization syndrome.

artículo científico publicado en 2015

SCN1Bb, atrial fibrillation, and Brugada syndrome: just another brick in the wall …

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Safety, feasibility, and outcome results of cardiac resynchronization with triple-site ventricular stimulation compared to conventional cardiac resynchronization.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Sodium channel blocker challenge in Brugada syndrome: Role in risk stratification

artículo científico publicado en 2018

Sodium channel blocker tests allow a clear distinction of electrophysiological characteristics and prognosis in patients with a type 2 or 3 Brugada electrocardiogram pattern.

artículo científico publicado en 2008

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

artículo científico publicado en 2008

Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity.

artículo científico publicado en 2017

Sudden cardiac arrest associated with early repolarization

artículo científico publicado en 2008

T-wave oversensing in patients with Brugada syndrome: true bipolar versus integrated bipolar implantable cardioverter defibrillator leads: multicenter retrospective study.

artículo científico publicado en 2015

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 QUIDAM study: Hydroquinidine therapy for the management of Brugada syndrome patients at high arrhythmic risk.

artículo científico publicado en 2017

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

artículo científico publicado el 21 de marzo de 2011

Time-to-first appropriate shock in patients implanted prophylactically with an implantable cardioverter-defibrillator: data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS)

scientific article published on 01 May 2019

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

artículo científico publicado en 2008

Usefulness of fetuin-A and C-reactive protein concentrations for prediction of outcome in acute coronary syndromes (from the French Registry of Acute ST-Elevation Non-ST-Elevation Myocardial Infarction [FAST-MI]).

artículo científico publicado en 2012

Value of the sodium-channel blocker challenge in Brugada syndrome

artículo científico

Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation

artículo científico publicado en 2013

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

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

artículo científico publicado en 2016

Ventricular fibrillation in loop recorder memories in a patient with early repolarization syndrome.

artículo científico publicado en 2011

Lista de obras de Vincent Probst

163 Genetic Modifiers in Carriers of the SCN5A E1784K Mutation with Variable Phenotypic Expression - Long QT3 / Brugada Syndrome Overlap Disease

2018 ESC Guidelines for the diagnosis and management of syncope

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

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

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

Age at diagnosis of Brugada syndrome: Influence on clinical characteristics and risk of arrhythmia

Age of First Arrhythmic Event in Brugada Syndrome: Data From the SABRUS (Survey on Arrhythmic Events in Brugada Syndrome) in 678 Patients

Ajmaline challenge: to stop or not to stop...

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation

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

Are women with severely symptomatic brugada syndrome different from men?

Benign vs. malignant inferolateral early repolarization: Focus on the T wave

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Brugada syndrome: Keep an eye on the electrocardiogram

Brugada syndrome: where are you?

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene

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

Cardiac conduction defects associate with mutations in SCN5A

Cardiac remote monitoring in France.

Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study

Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy

Characterization and Management of Arrhythmic Events in Young Patients With Brugada Syndrome

Circulating PCSK9 levels in acute coronary syndrome: Results from the PC-SCA-9 prospective study

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

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Correlation of intracardiac electrogram with surface electrocardiogram in Brugada syndrome patients

Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype

Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation

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

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

Differential calcium sensitivity in NaV 1.5 mixed syndrome mutants

Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org)

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

Early Repolarization Disease.

Electropharmacological characterization of cardiac repolarization in German shepherd dogs with an inherited syndrome of sudden death: abnormal response to potassium channel blockers

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Ethnic differences in patients with Brugada syndrome and arrhythmic events: New insights from Survey on Arrhythmic Events in Brugada Syndrome

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

Familial aggregation of calcific aortic valve stenosis in the western part of France

Fever-Related Arrhythmic Events in the Multicenter Survey on Arrhythmic Events in Brugada Syndrome (SABRUS).

Fine-scale human genetic structure in Western France

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

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

Heart rate variability and repolarization characteristics in symptomatic and asymptomatic Brugada syndrome.

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

Identification of large families in early repolarization syndrome

Idiopathic Ventricular Fibrillation: Role of Purkinje System and Microstructural Myocardial Abnormalities

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome.

Inherited progressive cardiac conduction disorders

Insufficiency of electrocardiogram alone in predicting infrahisian abnormalities in patients with type 1 myotonic dystrophy

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Long-term follow-up of patients with short QT syndrome

Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome

MOG1: a new susceptibility gene for Brugada syndrome

Mitral valve disease--morphology and mechanisms

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.

Monomorphic ventricular tachycardia in patients with Brugada syndrome: A multicenter retrospective study.

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

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study

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

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study-part 2.

PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome?

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block

Practical Instructions for the 2018 ESC Guidelines for the diagnosis and management of syncope

Predictors for short-term progressive heart failure death in New York Heart Association II patients implanted with a cardioverter defibrillator—the EVADEF study

Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome

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