Lista de obras - Oscar Campuzano - Dominio Público Uruguay

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

artículo científico publicado en 2015

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome

artículo científico publicado en 2014

A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

artículo científico publicado en 2013

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome

artículo científico publicado en 2013

A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death

artículo científico publicado en 2014

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

artículo científico publicado en 2016

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

artículo científico publicado en 2017

Age, Genetics, and Fibrosis in the Brugada Syndrome

artículo científico publicado en 2015

Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation

scientific article published on 03 September 2012

Autopsy investigation and Bayesian approach to coronary artery disease in victims of motor-vehicle accidents.

artículo científico publicado en 2011

Brugada Syndrome and PKP2: Evidences and uncertainties

artículo científico publicado en 2016

Brugada syndrome

artículo científico publicado en 2014

Brugada syndrome and p.E61X_RANGRF.

artículo científico publicado en 2013

Brugada syndrome: clinical and genetic findings.

artículo científico

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

artículo científico publicado en 2017

Cardiovascular translational medicine (IV): The genetic basis of malignant arrhythmias and cardiomyopathies.

artículo científico publicado en 2009

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2015

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2014

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

artículo científico publicado en 2013

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

artículo científico publicado en 2015

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

artículo científico publicado en 2017

Decreased myeloperoxidase expressing cells in the aged rat brain after excitotoxic damage

scientific article published on 13 May 2011

Delayed neurodegeneration and early astrogliosis after excitotoxicity to the aged brain.

artículo científico publicado en 2006

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

artículo científico publicado en 2015

Distinct pattern of microglial response, cyclooxygenase-2, and inducible nitric oxide synthase expression in the aged rat brain after excitotoxic damage

artículo científico publicado en 2008

Dual fatty acid synthase and HER2 signaling blockade shows marked antitumor activity against breast cancer models resistant to anti-HER2 drugs

artículo científico publicado en 2015

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

artículo científico publicado en 2021

Electrocardiogram in Newborns: Beneficial or Not?

artículo científico publicado en 2019

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

scientific article published on 01 January 2019

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

artículo científico publicado en 2020

Erratum to: Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects

scientific article published on 01 September 2015

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

artículo científico publicado en 2016

Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers.

artículo científico publicado en 2016

Flecainide in patient with aggressive catecholaminergic polymorphic ventricular tachycardia due to novel RYR2 mutation

artículo científico publicado en 2014

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

artículo científico publicado en 2015

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

artículo científico publicado en 2015

Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

artículo científico publicado en 2020

Genetic analysis in post-mortem samples with micro-ischemic alterations

artículo científico publicado en 2017

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

artículo científico publicado en 2014

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

scientific article published on 15 August 2014

Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects.

artículo científico publicado en 2014

Genetic basis of atrial fibrillation

scientific article published on 24 September 2016

Genetic basis of dilated cardiomyopathy.

artículo científico publicado en 2016

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

scientific article published on 29 March 2019

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

artículo científico publicado en 2015

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

artículo científico publicado en 2012

Genetics and cardiac channelopathies.

artículo científico publicado en 2010

Genetics of Brugada syndrome

artículo científico publicado en 2010

Genetics of arrhythmogenic right ventricular cardiomyopathy.

artículo científico

Genetics of channelopathies associated with sudden cardiac death

artículo científico publicado en 2015

Genetics of familial atrial fibrillation

artículo científico publicado en 2009

Genetics of inherited arrhythmias in pediatrics.

artículo científico

Genetics of sudden cardiac death in children and young athletes.

artículo científico

Genetics of sudden unexplained death

artículo científico publicado en 2013

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

artículo científico publicado en 2014

Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

artículo científico publicado en 2017

Increase in sudden death from coronary artery disease in young adults

artículo científico publicado en 2011

Increased levels of proinflammatory cytokines in the aged rat brain attenuate injury-induced cytokine response after excitotoxic damage.

artículo científico publicado en 2009

Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome

scientific article published on 20 July 2018

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

artículo científico publicado en 2017

Lafora Disease Is an Inherited Metabolic Cardiomyopathy.

artículo científico publicado en 2017

Large Genomic Imbalances in Brugada Syndrome.

artículo científico publicado en 2016

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

artículo científico publicado en 2013

Medico-legal perspectives on sudden cardiac death in young athletes

artículo científico publicado en 2016

Molecular autopsy in a cohort of infants died suddenly at rest

scientific article published on 31 July 2018

Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model

artículo científico publicado en 2016

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

artículo científico publicado en 2016

Negative autopsy and sudden cardiac death.

artículo científico publicado en 2014

Novel anti-fatty acid synthase compounds with anti-cancer activity in HER2+ breast cancer.

artículo científico publicado en 2010

Patients With Brugada Syndrome and Implanted Cardioverter-Defibrillators: Long-Term Follow-Up.

artículo científico publicado en 2017

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

artículo científico publicado en 2019

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

artículo científico publicado en 2014

Pre- and post-treatment with cyclosporine A in a rat model of transient focal cerebral ischaemia with multimodal MRI screening.

artículo científico publicado en 2012

Present Status of Brugada Syndrome: JACC State-of-the-Art Review

scientific article published on 01 August 2018

Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy.

artículo científico publicado en 2016

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

artículo científico publicado en 2015

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

scientific article published on 05 April 2020

Recent Advances in Short QT Syndrome

Reply to letter to editor: "Genetic basis of dilated cardiomyopathy"

artículo científico publicado en 2016

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

artículo científico publicado en 2018

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

artículo científico publicado en 2018

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia

artículo científico publicado en 2009

Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2013

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

artículo científico publicado en 2012

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications

artículo científico publicado en 2014

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

scientific article published on 16 July 2019

Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children.

artículo científico publicado en 2015

Short QT syndrome in pediatrics

artículo científico publicado en 2017

Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2014

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

artículo científico publicado en 2017

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

scientific article published on 20 March 2020

Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications

artículo científico publicado en 2017

Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

artículo científico publicado en 2016

Syncope and polymorphic ventricular tachycardia in the setting of a febrile illness

artículo científico publicado en 2013

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

artículo científico publicado en 2017

The role of clinical assessment and electrophysiology study in Brugada syndrome patients with syncope

artículo científico publicado en 2019

The role of clinical, genetic and segregation evaluation in sudden infant death.

artículo científico publicado en 2014

Update about atrial fibrillation genetics.

artículo científico publicado en 2017

Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?

scientific article published on 28 September 2020

Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy

artículo científico publicado en 2019

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data

artículo científico publicado en 2017

Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family

artículo científico publicado en 2017

Lista de obras de Oscar Campuzano

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome

A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome

A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Age, Genetics, and Fibrosis in the Brugada Syndrome

Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation

Autopsy investigation and Bayesian approach to coronary artery disease in victims of motor-vehicle accidents.

Brugada Syndrome and PKP2: Evidences and uncertainties

Brugada syndrome

Brugada syndrome and p.E61X_RANGRF.

Brugada syndrome: clinical and genetic findings.

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Cardiovascular translational medicine (IV): The genetic basis of malignant arrhythmias and cardiomyopathies.

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Decreased myeloperoxidase expressing cells in the aged rat brain after excitotoxic damage

Delayed neurodegeneration and early astrogliosis after excitotoxicity to the aged brain.

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

Distinct pattern of microglial response, cyclooxygenase-2, and inducible nitric oxide synthase expression in the aged rat brain after excitotoxic damage

Dual fatty acid synthase and HER2 signaling blockade shows marked antitumor activity against breast cancer models resistant to anti-HER2 drugs

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

Electrocardiogram in Newborns: Beneficial or Not?

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

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

Erratum to: Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers.

Flecainide in patient with aggressive catecholaminergic polymorphic ventricular tachycardia due to novel RYR2 mutation

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

Genetic analysis in post-mortem samples with micro-ischemic alterations

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects.

Genetic basis of atrial fibrillation

Genetic basis of dilated cardiomyopathy.

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Genetics and cardiac channelopathies.

Genetics of Brugada syndrome

Genetics of arrhythmogenic right ventricular cardiomyopathy.

Genetics of channelopathies associated with sudden cardiac death

Genetics of familial atrial fibrillation

Genetics of inherited arrhythmias in pediatrics.

Genetics of sudden cardiac death in children and young athletes.

Genetics of sudden unexplained death

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

Increase in sudden death from coronary artery disease in young adults

Increased levels of proinflammatory cytokines in the aged rat brain attenuate injury-induced cytokine response after excitotoxic damage.

Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

Lafora Disease Is an Inherited Metabolic Cardiomyopathy.

Large Genomic Imbalances in Brugada Syndrome.

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

Medico-legal perspectives on sudden cardiac death in young athletes

Molecular autopsy in a cohort of infants died suddenly at rest

Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Negative autopsy and sudden cardiac death.

Novel anti-fatty acid synthase compounds with anti-cancer activity in HER2+ breast cancer.

Patients With Brugada Syndrome and Implanted Cardioverter-Defibrillators: Long-Term Follow-Up.

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

Pre- and post-treatment with cyclosporine A in a rat model of transient focal cerebral ischaemia with multimodal MRI screening.

Present Status of Brugada Syndrome: JACC State-of-the-Art Review

Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy.

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

Recent Advances in Short QT Syndrome

Reply to letter to editor: "Genetic basis of dilated cardiomyopathy"