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Genetics and disease of ventricular muscle
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scholarly article
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stated in
PubMed
title
Genetics and disease of ventricular muscle
(English)
1 reference
stated in
PubMed
author name string
Fatkin D
series ordinal
1
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stated in
PubMed
Seidman CE
series ordinal
2
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stated in
PubMed
Seidman JG
series ordinal
3
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stated in
PubMed
publication date
1 January 2014
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stated in
PubMed
published in
Cold Spring Harbor Perspectives in Medicine
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stated in
Crossref
volume
4
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stated in
PubMed
page(s)
a021063
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PubMed
issue
1
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PubMed
cites work
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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
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R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy
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Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
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Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?
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Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
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Mutations in sarcomere protein genes in left ventricular noncompaction
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20 March 2017
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
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20 March 2017
Q28304085
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20 March 2017
Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy
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Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
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20 March 2017
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation
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Modelling the long QT syndrome with induced pluripotent stem cells
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MicroRNAs in the human heart: a clue to fetal gene reprogramming in heart failure
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7 April 2017
Animal models of human disease: zebrafish swim into view
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Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
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Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
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Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
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Induced pluripotent stem cell-derived cardiomyocytes: boutique science or valuable arrhythmia model?
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29 September 2017
A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance
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Titin is a major human disease gene
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Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
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Tuning the molecular giant titin through phosphorylation: role in health and disease
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Genetic mutations and mechanisms in dilated cardiomyopathy
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29 September 2017
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
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29 September 2017
Long noncoding RNAs in cardiac development and pathophysiology
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29 September 2017
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
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29 September 2017
Cardiovascular epigenetics: from DNA methylation to microRNAs
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29 September 2017
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts
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29 September 2017
Zebrafish: a novel research tool for cardiac (patho)electrophysiology and ion channel disorders
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29 September 2017
Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives
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29 September 2017
Population-based variation in cardiomyopathy genes
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29 September 2017
Hooked! Modeling human disease in zebrafish
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29 September 2017
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy
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29 September 2017
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.
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29 September 2017
Genetics of ion-channel disorders.
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29 September 2017
A human 3' miR-499 mutation alters cardiac mRNA targeting and function.
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29 September 2017
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
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29 September 2017
Truncations of titin causing dilated cardiomyopathy.
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29 September 2017
Epigenetics and cardiovascular development.
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29 September 2017
Distinct epigenomic features in end-stage failing human hearts
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29 September 2017
Review and metaanalysis of the frequency of familial dilated cardiomyopathy.
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29 September 2017
Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach
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29 September 2017
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy
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29 September 2017
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
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29 September 2017
Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
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29 September 2017
Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy
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29 September 2017
Biology of endoplasmic reticulum stress in the heart
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29 September 2017
Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C.
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29 September 2017
Pharmacoepigenetics in heart failure
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PubMed Central
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29 September 2017
Genetics of restrictive cardiomyopathy
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29 September 2017
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria
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PubMed Central
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29 September 2017
Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure
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PubMed Central
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29 September 2017
Zebrafish genetic models for arrhythmia
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PubMed Central
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29 September 2017
Left ventricular noncompaction
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PubMed Central
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29 September 2017
Absence of transverse tubules contributes to non-uniform Ca(2+) wavefronts in mouse and human embryonic stem cell-derived cardiomyocytes.
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29 September 2017
Resolution of established cardiac hypertrophy and fibrosis and prevention of systolic dysfunction in a transgenic rabbit model of human cardiomyopathy through thiol-sensitive mechanisms
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29 September 2017
Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline
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29 September 2017
Fishing for the genetic basis of cardiovascular disease.
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29 September 2017
The emerging role of microRNAs in cardiac remodeling and heart failure
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
29 September 2017
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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29 September 2017
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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29 September 2017
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
29 September 2017
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
29 September 2017
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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29 September 2017
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
29 September 2017
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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2 June 2018
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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2 June 2018
Integrin-linked kinase, a novel component of the cardiac mechanical stretch sensor, controls contractility in the zebrafish heart
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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2 June 2018
A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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27 November 2018
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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27 November 2018
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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27 November 2018
Targeted gene disruption in somatic zebrafish cells using engineered TALENs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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27 November 2018
Inherited Cardiomyopathies
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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27 November 2018
Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
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27 November 2018
Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
In vivo recording of adult zebrafish electrocardiogram and assessment of drug-induced QT prolongation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869277
retrieved
27 November 2018
A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Genetics of dilated cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Impact of Atrial Fibrillation on the Clinical Course of Hypertrophic Cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Hypertrophic cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24384818
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1101/CSHPERSPECT.A021063
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2738174
OpenCitations bibliographic resource ID
2738174
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2738174
PMCID
3869277
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2738174
PubMed ID
24384818
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2738174
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