Lista de obras -

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

scientific article published on 09 May 2019

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

scientific article published on 01 November 2019

A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.

artículo científico publicado en 2013

A clinical approach to a family history of sudden death.

artículo científico

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.

artículo científico publicado en 2015

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

artículo científico publicado en 2013

Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

artículo científico publicado en 2016

Advances in induced pluripotent stem cells, genomics, biomarkers, and antiplatelet therapy highlights of the year in JCTR 2013.

artículo científico publicado en 2014

Angiotensin II Type 2 Receptor Signaling Attenuates Aortic Aneurysm in Mice Through ERK Antagonism ⬇️

artículo científico publicado el 15 de abril de 2011

Angiotensin II antagonism is associated with reduced risk for gastrointestinal bleeding caused by arteriovenous malformations in patients with left ventricular assist devices

artículo científico publicado en 2016

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

artículo científico publicado en 2013

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

artículo científico publicado en 2019

Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

artículo científico publicado en 2015

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population: Clinical Characterization and Comparison With Adult-Onset Disease

artículo científico publicado en 2015

Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.

artículo científico publicado en 2017

Baseline Characteristics Predict the Presence of Amyloid on Endomyocardial Biopsy.

artículo científico publicado en 2016

Cardiac Management of the Patient With Duchenne Muscular Dystrophy

artículo científico publicado en 2018

Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis

artículo científico publicado en 2015

Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation.

artículo científico publicado en 2017

Cardiovascular genetics provides new insights for early onset arrhythmogenic right ventricular dysplasia/cardiomyopathy ⬇️

artículo científico publicado el 26 de julio de 2011

Case report of a patient with left ventricular assistance device undergoing chemotherapy for a new diagnosis of lung cancer

artículo científico publicado en 2015

Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy

artículo científico publicado en 2016

Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

artículo científico publicado en 2016

Clinical pathway to screen for cardiac amyloidosis in heart failure with preserved ejection fraction

scientific article published on 01 January 2019

Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.

artículo científico publicado en 2016

Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy

artículo científico publicado en 2015

Cover

artículo científico publicado en 2018

Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy.

artículo científico publicado en 2017

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

scientific article published on 18 June 2019

Designing a course model for distance-based online bioinformatics training in Africa: The H3ABioNet experience

artículo científico publicado en 2017

Epidemiology of the inherited cardiomyopathies

artículo científico publicado en 2020

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics ⬇️

artículo científico publicado el 1 de enero de 2012

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

artículo científico publicado en 2021

Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.

artículo científico publicado en 2014

Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

artículo científico publicado en 2013

Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy.

artículo científico publicado en 2013

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2020

Fluctuating creatinine in the cardiac unit.

artículo científico

Four-Chamber Intracardiac Thrombi Complicating Wild-Type TTR Amyloidosis

scientific article published on 20 December 2018

Further evidence of harm from exercise in ARVD/C

artículo científico publicado en 2015

GLA-Ring Opportunities and Challenges for Fabry Disease

artículo científico publicado en 2016

Genetic Evaluation of Cardiomyopathy - a Heart Failure Society of America Practice Guideline

artículo científico publicado en 2018

Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis

artículo científico publicado en 2017

Giant Ring Mitochondria in a Patient With Heart Failure and Cerebral White Matter Disease Resulting From an MT-TL1 Mitochondrial Gene Mutation

artículo científico publicado en 2017

Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy.

artículo científico publicado en 2014

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

scientific article published on 21 May 2018

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

artículo científico publicado en 2015

Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention

artículo científico publicado en 2011

Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

scientific article published on 27 June 2013

LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset

scientific article published on 10 May 2013

Lack of Relationship Between Serum Cardiac Troponin I Level and Giant Cell Myocarditis Diagnosis and Outcomes

artículo científico publicado en 2016

Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years

artículo científico publicado en 2017

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

artículo científico publicado en 2014

Mitral valve disease in Marfan syndrome and related disorders.

artículo científico

Mitral valve disease--morphology and mechanisms

artículo científico publicado en 2015

Multi-Scale Biomechanical Remodeling in Aging and Genetic Mutant Murine Mitral Valve Leaflets: Insights into Marfan Syndrome ⬇️

artículo científico publicado el 11 de septiembre de 2012

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

artículo científico publicado en 2017

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

artículo científico publicado en 2014

Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs

artículo científico publicado en 2015

Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy ⬇️

artículo científico publicado en 2017

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

scientific article published on 30 August 2018

Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice.

artículo científico publicado en 2017

Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.

artículo científico

Optimization of Serum Immunoglobulin Free Light Chain Analysis for Subclassification of Cardiac Amyloidosis

artículo científico publicado en 2015

Pathophysiology and Therapy of Cardiac Dysfunction in Duchenne Muscular Dystrophy

artículo científico publicado el 1 de octubre de 2011

Positive family history decreases diagnosis time by over 200

scientific article published on 01 January 2019

Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy.

artículo científico publicado en 2015

Prevalence of atrial arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathy

artículo científico publicado en 2013

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

artículo científico publicado en 2018

Relationship between monoclonal gammopathy and cardiac amyloid type.

artículo científico publicado en 2012

Review and Updates in Regenerative and Personalized Medicine, Preclinical Animal Models, and Clinical Care in Cardiovascular Medicine.

artículo científico publicado en 2015

Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers

artículo científico publicado en 2013

Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.

artículo científico publicado en 2017

SSRI/SNRI Therapy is Associated With a Higher Risk of Gastrointestinal Bleeding in LVAD Patients

scientific article published on 08 August 2019

Seven factors predict a delayed diagnosis of cardiac amyloidosis

scientific article published on 31 August 2018

Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy.

artículo científico publicado en 2014

Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities

artículo científico publicado en 2015

The Complex Genetics of Atrial Fibrillation ⬇️

artículo científico publicado el 18 de julio de 2012

The Role of Genetics in Peripartum Cardiomyopathy

artículo científico publicado en 2017

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

artículo científico publicado en 2014

The mitral valve in hypertrophic cardiomyopathy: old versus new concepts.

artículo científico

Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency

scientific article published on 07 October 2019

Translating cardiovascular knowledge: a global health perspective

artículo científico publicado en 2015

Translational research on the mitral valve: from developmental mechanisms to new therapies

artículo científico publicado en 2011

Transthyretin Stabilization by AG10 in Symptomatic Transthyretin Amyloid Cardiomyopathy

artículo científico publicado en 2019

Transthyretin cardiac amyloidosis: pathogenesis, treatments, and emerging role in heart failure with preserved ejection fraction

artículo científico publicado en 2014

Untangling Wild-Type Transthyretin Amyloidosis

artículo científico publicado en 2016

Use of genetics in the clinical evaluation of cardiomyopathy

scientific article published on 01 December 2009

Why should cardiologists consider genetic testing for hypertrophic cardiomyopathy?

artículo científico publicado en 2014

Lista de obras de

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.

A clinical approach to a family history of sudden death.

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Advances in induced pluripotent stem cells, genomics, biomarkers, and antiplatelet therapy highlights of the year in JCTR 2013.

Angiotensin II Type 2 Receptor Signaling Attenuates Aortic Aneurysm in Mice Through ERK Antagonism ⬇️

Angiotensin II antagonism is associated with reduced risk for gastrointestinal bleeding caused by arteriovenous malformations in patients with left ventricular assist devices

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population: Clinical Characterization and Comparison With Adult-Onset Disease

Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.

Baseline Characteristics Predict the Presence of Amyloid on Endomyocardial Biopsy.

Cardiac Management of the Patient With Duchenne Muscular Dystrophy

Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis

Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation.

Cardiovascular genetics provides new insights for early onset arrhythmogenic right ventricular dysplasia/cardiomyopathy ⬇️

Case report of a patient with left ventricular assistance device undergoing chemotherapy for a new diagnosis of lung cancer

Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy

Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

Clinical pathway to screen for cardiac amyloidosis in heart failure with preserved ejection fraction

Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.

Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy

Cover

Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy.

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Designing a course model for distance-based online bioinformatics training in Africa: The H3ABioNet experience

Epidemiology of the inherited cardiomyopathies

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics ⬇️

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.

Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy.

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy

Fluctuating creatinine in the cardiac unit.

Four-Chamber Intracardiac Thrombi Complicating Wild-Type TTR Amyloidosis

Further evidence of harm from exercise in ARVD/C

GLA-Ring Opportunities and Challenges for Fabry Disease

Genetic Evaluation of Cardiomyopathy - a Heart Failure Society of America Practice Guideline

Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis

Giant Ring Mitochondria in a Patient With Heart Failure and Cerebral White Matter Disease Resulting From an MT-TL1 Mitochondrial Gene Mutation

Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy.

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention

Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset

Lack of Relationship Between Serum Cardiac Troponin I Level and Giant Cell Myocarditis Diagnosis and Outcomes

Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

Mitral valve disease in Marfan syndrome and related disorders.

Mitral valve disease--morphology and mechanisms

Multi-Scale Biomechanical Remodeling in Aging and Genetic Mutant Murine Mitral Valve Leaflets: Insights into Marfan Syndrome ⬇️

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs

Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy ⬇️

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice.

Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.

Optimization of Serum Immunoglobulin Free Light Chain Analysis for Subclassification of Cardiac Amyloidosis

Pathophysiology and Therapy of Cardiac Dysfunction in Duchenne Muscular Dystrophy

Positive family history decreases diagnosis time by over 200

Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy.

Prevalence of atrial arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

Relationship between monoclonal gammopathy and cardiac amyloid type.

Review and Updates in Regenerative and Personalized Medicine, Preclinical Animal Models, and Clinical Care in Cardiovascular Medicine.

Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers

Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.

SSRI/SNRI Therapy is Associated With a Higher Risk of Gastrointestinal Bleeding in LVAD Patients

Seven factors predict a delayed diagnosis of cardiac amyloidosis

Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy.

Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities

The Complex Genetics of Atrial Fibrillation ⬇️

The Role of Genetics in Peripartum Cardiomyopathy