Lista de obras - Elisabeth M Lodder - Dominio Público Uruguay

Aquaporin Channels in the Heart-Physiology and Pathophysiology

scientific article published on 25 April 2019

Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance.

artículo científico publicado en 2013

Clinical Assessment of the Pathogenicity of Unknown Variants in Long-QT Syndrome: Does the Pendulum Swing Back?

scientific article published on 04 April 2012

Clinical and Cytogenetic Analyses in Uveal Melanoma

scientific article published on 01 September 2006

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Complex Genetics of Cardiovascular Traits in Mice: F2-Mapping of QTLs and Their Underlying Genes.

artículo científico publicado en 2017

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

artículo científico publicado en 2014

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

artículo científico publicado en 2008

Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations

scientific article published on 01 May 2016

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction

artículo científico publicado en 2012

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

artículo científico publicado en 2017

Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation

artículo científico publicado en 2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

artículo científico publicado en 2016

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

artículo científico publicado en 2017

Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis

artículo científico publicado en 2008

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I K,ACh)

scientific article published on 09 July 2019

Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing.

artículo científico publicado en 2016

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

artículo científico publicado en 2014

Genomics of cardiac electrical function

artículo científico publicado en 2014

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

artículo científico publicado en 2014

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

scientific article published on 17 November 2020

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

artículo científico publicado en 2019

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

artículo científico publicado en 2009

Integrative genomic approach identifies multiple genes involved in cardiac collagen deposition.

artículo científico publicado en 2014

Introducing Genetics - 2nd Edition

artículo científico publicado en 2016

Letter by Vermeer et al Regarding Article, “Phenotypic Spectrum of HCN4 Mutations: A Clinical Case”

scientific article published on 01 May 2018

Mouse models in arrhythmogenic right ventricular cardiomyopathy.

artículo científico publicado en 2012

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

artículo científico publicado en 2017

Pacing Discovery: G-Protein β Subunit Mutations in Sinus Node Dysfunction

artículo científico publicado en 2017

Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure

artículo científico publicado en 2020

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

artículo científico publicado en 2016

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

artículo científico publicado en 2018

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation

artículo científico publicado en 2017

TNNI3K in cardiovascular disease and prospects for therapy.

artículo científico

The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity.

artículo científico publicado en 2017

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

artículo científico

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

artículo científico publicado en 2019

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

artículo científico publicado en 2017

Lista de obras de Elisabeth M Lodder

Aquaporin Channels in the Heart-Physiology and Pathophysiology

Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance.

Clinical Assessment of the Pathogenicity of Unknown Variants in Long-QT Syndrome: Does the Pendulum Swing Back?

Clinical and Cytogenetic Analyses in Uveal Melanoma

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Complex Genetics of Cardiovascular Traits in Mice: F2-Mapping of QTLs and Their Underlying Genes.

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I K,ACh)

Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing.

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

Genomics of cardiac electrical function

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

Integrative genomic approach identifies multiple genes involved in cardiac collagen deposition.

Introducing Genetics - 2nd Edition

Letter by Vermeer et al Regarding Article, “Phenotypic Spectrum of HCN4 Mutations: A Clinical Case”

Mouse models in arrhythmogenic right ventricular cardiomyopathy.

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

Pacing Discovery: G-Protein β Subunit Mutations in Sinus Node Dysfunction

Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation

TNNI3K in cardiovascular disease and prospects for therapy.

The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity.

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome