Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. - Wikidata - wikimedia - TriplyDB

Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.

Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.

http://www.wikidata.org/entity/Q34627407

about

Implantable defibrillators versus medical therapy for cardiac channelopathies Implantable defibrillators versus medical therapy for cardiac channelopathies High-throughput sequencing for biology and medicine Cardiovascular genomics Heart failure: advanced development in genetics and epigenetics Hypertrophic cardiomyopathy: Can the noninvasive diagnostic testing identify high risk patients?Genetic testing for long QT syndrome and the category of cardiac ion channelopathies.Genetics of long QT syndrome.RNA interference-based therapeutics for inherited long QT syndrome Next-generation sequencing: from understanding biology to personalized medicine.The Genetic Challenges and Opportunities in Advanced Heart Failure HRS policy statement: clinical cardiac electrophysiology fellowship curriculum: update 2011 Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death Impact of genetics on the clinical management of channelopathies.Successful implantation of an intracardiac defibrillator in an infant with long QT syndrome and isolated noncompaction of the ventricular myocardium.Inherited cardiac arrhythmias: diagnosis, treatment, and prevention.Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes.Purkinje Cells as Sources of Arrhythmias in Long QT Syndrome Type 3.A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.Paralogous annotation of disease-causing variants in long QT syndrome genes.Personalized medicine in cardiovascular diseases.Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy Inherited Arrhythmias - Where do we Stand?Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise.Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy Quantitative PCR as an alternative in the diagnosis of long-QT syndrome Almanac 2011: Cardiac Arrhythmias and Pacing. The National Society Journals Present Selected Research that has Driven Recent Advances in Clinical Cardiology.The investigation of sudden arrhythmic death syndrome (SADS)-the current approach to family screening and the future role of genomics and stem cell technology.Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention Interpreting secondary cardiac disease variants in an exome cohort.Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis.Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes.Mechanisms of disease: hypertrophic cardiomyopathy.Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.Understanding cardiovascular disease: a journey through the genome (and what we found there).Genetics of sudden cardiac death in children and young athletes.Can an athlete have too much ticker? Hypertrophic cardiomyopathy in young athletes.Brugada syndrome: an update.

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Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.

http://www.wikidata.org/entity/Q34627407

description

2011 nî lūn-bûn

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CIRCULATIONAHA.109.914838

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David J Tester

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Michael J Ackerman

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P2860

Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias

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

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome

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

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results

Multiplex amplification of large sets of human exons

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading fram

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scholarly article

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