标题
Genetic testing for inherited cardiac disease
作者
关键词
-
出版物
Nature Reviews Cardiology
Volume 10, Issue 10, Pages 571-583
出版商
Springer Nature
发表日期
2013-07-30
DOI
10.1038/nrcardio.2013.108
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Late Sodium Current Inhibition in Acquired and Inherited Ventricular (dys)function and Arrhythmias
- (2013) Carol Ann Remme et al. CARDIOVASCULAR DRUGS AND THERAPY
- Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants
- (2013) Lia Crotti et al. CIRCULATION
- Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
- (2013) Karin Y. van Spaendonck-Zwarts et al. EUROPEAN JOURNAL OF HEART FAILURE
- Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing
- (2013) Hung-Fat Tse et al. HUMAN MOLECULAR GENETICS
- Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel
- (2013) Hui Liu et al. PLoS One
- Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica
- (2013) Atilano Carcavilla et al. REVISTA ESPANOLA DE CARDIOLOGIA
- Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
- (2012) Mette Nyegaard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity
- (2012) Alessandra Ruggiero et al. CARDIOVASCULAR RESEARCH
- Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events
- (2012) Alon Barsheshet et al. CIRCULATION
- Arrhythmogenic Right Ventricular Cardiomyopathy
- (2012) Cristina Basso et al. Circulation-Arrhythmia and Electrophysiology
- Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2012) Christian van der Werf et al. Circulation-Arrhythmia and Electrophysiology
- Brugada Syndrome
- (2012) Yuka Mizusawa et al. Circulation-Arrhythmia and Electrophysiology
- A Novel Disease Gene for Brugada Syndrome
- (2012) Taisuke Ishikawa et al. Circulation-Arrhythmia and Electrophysiology
- Spongious Hypertrophic Cardiomyopathy in Patients With Mutations in the Four-and-a-Half LIM Domain 1 Gene
- (2012) Josepha S. Binder et al. Circulation-Cardiovascular Genetics
- Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome
- (2012) John R. Giudicessi et al. Circulation-Cardiovascular Genetics
- The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43
- (2012) KA Hodgkinson et al. CLINICAL GENETICS
- Beyond the Cardiac Myofilament: Hypertrophic Cardiomyopathy- Associated Mutations in Genes that Encode Calcium-Handling Proteins
- (2012) A. P. Landstrom et al. CURRENT MOLECULAR MEDICINE
- Unexplained sudden death, focussing on genetics and family phenotyping
- (2012) Hariharan Raju et al. CURRENT OPINION IN CARDIOLOGY
- Drug-induced arrhythmia: pharmacogenomic prescribing?
- (2012) E. R. Behr et al. EUROPEAN HEART JOURNAL
- Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
- (2012) Paul A. van der Zwaag et al. EUROPEAN JOURNAL OF HEART FAILURE
- High prevalence of genetic variants previously associated with LQT syndrome in new exome data
- (2012) Lena Refsgaard et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
- (2012) Felix W. Friedrich et al. HUMAN MOLECULAR GENETICS
- Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human
- (2012) Nathalie Roux-Buisson et al. HUMAN MOLECULAR GENETICS
- AKCNQ1Mutation Causes a High Penetrance for Familial Atrial Fibrillation
- (2012) DANIEL C. BARTOS et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- Cardiomyopathy in Friedreich Ataxia
- (2012) R. Mark Payne et al. JOURNAL OF CHILD NEUROLOGY
- Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing
- (2012) Lia Crotti et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia
- (2012) Yalda Jamshidi et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers
- (2012) Ingrid A.W. van Rijsingen et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Multifocal Ectopic Purkinje-Related Premature Contractions
- (2012) Gabriel Laurent et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
- (2012) Wei Guo et al. NATURE MEDICINE
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- The Pathobiology of Arrhythmogenic Cardiomyopathy
- (2011) Jeffrey E. Saffitz Annual Review of Pathology-Mechanisms of Disease
- Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy
- (2011) Giovanni Quarta et al. CIRCULATION
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
- (2011) Moniek G.P.J. Cox et al. CIRCULATION
- Electrocardiographic Characteristics and SCN5A Mutations in Idiopathic Ventricular Fibrillation Associated With Early Repolarization
- (2011) Hiroshi Watanabe et al. Circulation-Arrhythmia and Electrophysiology
- KCNE5 ( KCNE1L ) Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation
- (2011) Seiko Ohno et al. Circulation-Arrhythmia and Electrophysiology
- Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy
- (2011) Jeanne L. Theis et al. Circulation-Cardiovascular Genetics
- A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes
- (2011) Stefan Kääb et al. Circulation-Cardiovascular Genetics
- Long-Term Outcomes in Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Troponin T Gene
- (2011) Ferdinando Pasquale et al. Circulation-Cardiovascular Genetics
- HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
- (2011) M. J. Ackerman et al. EUROPACE
- Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy
- (2011) I. Christiaans et al. EUROPEAN HEART JOURNAL
- Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
- (2011) Giovanni Quarta et al. EUROPEAN HEART JOURNAL
- Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
- (2011) Ahmad S. Amin et al. EUROPEAN HEART JOURNAL
- Sudden death and ion channel disease: pathophysiology and implications for management
- (2011) R. Bastiaenen et al. HEART
- The emerging role of the cardiac genetic counselor
- (2011) Jodie Ingles et al. HEART RHYTHM
- Key role of the molecular autopsy in sudden unexpected death
- (2011) Christopher Semsarian et al. HEART RHYTHM
- The Nonlinear Structure of the Desmoplakin Plakin Domain and the Effects of Cardiomyopathy-Linked Mutations
- (2011) Caezar Al-Jassar et al. JOURNAL OF MOLECULAR BIOLOGY
- Risk Factors for Recurrent Syncope and Subsequent Fatal or Near-Fatal Events in Children and Adolescents With Long QT Syndrome
- (2011) Judy F. Liu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise
- (2011) Jamie D. Kapplinger et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
- (2011) Bernard J. Gersh et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
- (2011) Dirk J. Lefeber et al. PLoS Genetics
- PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing
- (2010) Andrew P. Landstrom et al. AMERICAN HEART JOURNAL
- Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome
- (2010) Yanzong Yang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy
- (2010) Hu Wang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome
- (2010) V. Probst et al. CIRCULATION
- SCN5A Mutation Is Associated With Early and Frequent Recurrence of Ventricular Fibrillation in Patients With Brugada Syndrome
- (2010) Nobuhiro Nishii et al. CIRCULATION JOURNAL
- Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy
- (2010) Perry Elliott et al. Circulation-Cardiovascular Genetics
- Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy
- (2010) Ray E. Hershberger et al. Circulation-Cardiovascular Genetics
- Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers
- (2010) Imke Christiaans et al. EUROPACE
- Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women
- (2010) Ole Havndrup et al. EUROPEAN JOURNAL OF HEART FAILURE
- Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
- (2010) Aviva Levitas et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Utility of high and standard right precordial leads during ajmaline testing for the diagnosis of Brugada syndrome
- (2010) M. Govindan et al. HEART
- Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in The Netherlands
- (2010) Christian van der Werf et al. HEART RHYTHM
- Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes
- (2010) Argelia Medeiros-Domingo et al. HEART RHYTHM
- Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
- (2010) Elena Burashnikov et al. HEART RHYTHM
- R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation
- (2010) Daniel C. Bartos et al. HEART RHYTHM
- Active Cascade Screening in Primary Inherited Arrhythmia Syndromes
- (2010) Nynke Hofman et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Polymorphisms in the NOS1APGene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome
- (2010) Marta Tomás et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals
- (2010) Ilan Goldenberg et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation
- (2009) Marielle Alders et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2009) Meiso Hayashi et al. CIRCULATION
- NOS1AP Is a Genetic Modifier of the Long-QT Syndrome
- (2009) Lia Crotti et al. CIRCULATION
- Latent Genetic Backgrounds and Molecular Pathogenesis in Drug-Induced Long-QT Syndrome
- (2009) Hideki Itoh et al. Circulation-Arrhythmia and Electrophysiology
- Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy
- (2009) Juan Pablo Kaski et al. Circulation-Cardiovascular Genetics
- SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
- (2009) Vincent Probst et al. Circulation-Cardiovascular Genetics
- Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy
- (2009) Laëtitia Duboscq-Bidot et al. EUROPEAN HEART JOURNAL
- Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca2+ regulation
- (2009) Marina Cerrone et al. HEART RHYTHM
- An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
- (2009) Jamie D. Kapplinger et al. HEART RHYTHM
- The genetic basis of long QT and short QT syndromes: A mutation update
- (2009) Paula L. Hedley et al. HUMAN MUTATION
- Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy
- (2009) Barry J. Maron JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
- (2009) Ray E. Hershberger et al. JOURNAL OF CARDIAC FAILURE
- Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I
- (2009) Martin Kruse et al. JOURNAL OF CLINICAL INVESTIGATION
- Role of HCN4 channel in preventing ventricular arrhythmia
- (2009) Kazuo Ueda et al. JOURNAL OF HUMAN GENETICS
- 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
- (2009) Argelia Medeiros-Domingo et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy
- (2009) Christine Chiu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy
- (2009) David Hassel et al. NATURE MEDICINE
- Severe Hypertrophic Cardiomyopathy in an Infant with a Novel PRKAG2 Gene Mutation: Potential Differences Between Infantile and Adult Onset Presentation
- (2009) Brendan P. Kelly et al. PEDIATRIC CARDIOLOGY
- ARVC-Related Mutations in Divergent Region 3 Alter Functional Properties of the Cardiac Ryanodine Receptor
- (2008) Andrea Koop et al. BIOPHYSICAL JOURNAL
- Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome
- (2008) Ilan Goldenberg et al. CIRCULATION
- Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
- (2008) Takuro Arimura et al. CIRCULATION JOURNAL
- Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families
- (2008) Elijah R. Behr et al. EUROPEAN HEART JOURNAL
- Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
- (2008) Paola G. Meregalli et al. HEART RHYTHM
- Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
- (2008) Christian Geier et al. HUMAN MOLECULAR GENETICS
- Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATPChannel
- (2008) MICHEL HAÏSSAGUERRE et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
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