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Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome

PloS one, 2024-01, Vol.19 (1), p.e0287206-e0287206

2024

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High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia

Heart rhythm, 2015-07, Vol.12 (7), p.1584-1594

2015

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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

Circulation (New York, N.Y.), 2007-01, Vol.115 (4), p.442-449

2007

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Single-Nuclear RNA Sequencing of Endomyocardial Biopsies Identifies Persistence of Donor-Recipient Chimerism With Distinct Signatures in Severe Cardiac Allograft Vasculopathy

Circulation. Heart failure, 2023-01, Vol.16 (1), p.e010119-e010119

2023

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Comparative analysis of two independent Myh6-Cre transgenic mouse lines

Journal of Molecular and Cellular Cardiology Plus (Online), 2024-09, Vol.9, p.100081, Article 100081

2024

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Sex-specific responses to slow progressive pressure overload in a large animal model of HFpEF

American journal of physiology. Heart and circulatory physiology, 2022-10, Vol.323 (4), p.H797-H817

2022

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Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

International journal of molecular sciences, 2021-07, Vol.22 (13), p.7108

2021

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Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

Journal of molecular and cellular cardiology, 2009-05, Vol.46 (5), p.695-703

2009

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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

Journal of the American Heart Association, 2016-07, Vol.5 (7), p.n/a

2016

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A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

Heart rhythm, 2012-05, Vol.9 (5), p.760-769

2012

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A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis

PloS one, 2014, Vol.9 (9), p.e106982-e106982

2014

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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

Stem cells international, 2020, Vol.2020 (2020), p.1-16

2020

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Selections from the Solve et Coagula series

Religious studies review, 2023-12, Vol.49 (4), p.547-563

2023

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Solve et Coagula

Religious studies review, 2022-03, Vol.48 (1), p.75-93

2022

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Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome

HeartRhythm case reports, 2017-01, Vol.3 (1), p.13-17

2017

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Abstract P1089: Short-QT & Long-QT Associated Trpm4 Mutations

Circulation research, 2022-08, Vol.131 (Suppl_1)

2022

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Identifying sex-based differences in heart failure with preserved ejection fraction

Journal of molecular and cellular cardiology, 2022-12, Vol.173, p.35-35

2022

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Abstract 21187: A Novel Mutations in DPP10 Linked to Inherited J Wave Associated With Sudden Infant Death Syndrome by Augmentation of K v 4.3 Channel Current

Circulation (New York, N.Y.), 2017-11, Vol.136 (suppl_1)

2017

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Abstract 21344: Mutations in CACNA1C and KCNE2 Genes are Associated With Brugada Syndrome and Epilepsy

Circulation (New York, N.Y.), 2017-11, Vol.136 (suppl_1)

2017

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

Heart rhythm, 2010-01, Vol.7 (1), p.33-46

2010

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ATRIAL FIBRILLATION ASSOCIATED TO WPW SYNDROME IN A PATIENT WITH CONCOMITANT BRUGADA SYNDROME

Journal of the American College of Cardiology, 2017-03, Vol.69 (11), p.2342-2342

2017

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IDENTIFICATION OF NOVEL MUTATIONS ASSOCIATED WITH CARDIAC PRKAG2 SYNDROME

Journal of the American College of Cardiology, 2017-03, Vol.69 (11), p.927-927

2017

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A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Nav1.5 and Kv4.3 channel currents

Heart rhythm, 2012-05, Vol.9 (5), p.760-769

2012

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Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

Single-Nuclear RNA Sequencing of Endomyocardial Biopsies Identifies Persistence of Donor-Recipient Chimerism With Distinct Signatures in Severe Cardiac Allograft Vasculopathy

Comparative analysis of two independent Myh6-Cre transgenic mouse lines

Sex-specific responses to slow progressive pressure overload in a large animal model of HFpEF

Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Clinico-histopathologic and single-nuclei RNA-sequencing insights into cardiac injury and microthrombi in critical COVID-19

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis

Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

Selections from the Solve et Coagula series

Solve et Coagula

Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome

Abstract P1089: Short-QT & Long-QT Associated Trpm4 Mutations

Identifying sex-based differences in heart failure with preserved ejection fraction

Abstract 21187: A Novel Mutations in DPP10 Linked to Inherited J Wave Associated With Sudden Infant Death Syndrome by Augmentation of K v 4.3 Channel Current

Abstract 21344: Mutations in CACNA1C and KCNE2 Genes are Associated With Brugada Syndrome and Epilepsy

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

ATRIAL FIBRILLATION ASSOCIATED TO WPW SYNDROME IN A PATIENT WITH CONCOMITANT BRUGADA SYNDROME

IDENTIFICATION OF NOVEL MUTATIONS ASSOCIATED WITH CARDIAC PRKAG2 SYNDROME

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Nav1.5 and Kv4.3 channel currents

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