Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Further assessment of the pathogenic nature of a genome-edited isogenic line carrying a known pathogenic MYL3 mutation, MYL3<sub>(170C>G)</sub>, and a carrier-specific iPSC-CMs line, carrying a MYBPC3<sub>(961G>A)</sub> HCM variant, demonstrated the ability of this combined platform to provide both pathogenic and benign assessments.
|
29914921 |
2018 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
|
28658286 |
2017 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
|
26443374 |
2016 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
|
26443374 |
2016 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.
|
25086479 |
2015 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Widespread macromolecular interaction perturbations in human genetic disorders.
|
25910212 |
2015 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Thirty-eight HCM index patients (mean age 60±16 years) underwent systematic mutation screening of eight sarcomeric genes: β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), troponin T (TNNT2), troponin I (TNNI3), myosin ventricular regulatory light chain 2 (MYL2), myosin ventricular essential light chain 1 (MYL3), α-tropomyosin (TPM1), and cardiac α-actin (ACTC), using direct DNA sequencing.
|
25086479 |
2015 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?
|
26779504 |
2015 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
|
25342278 |
2014 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy.
|
23426552 |
2013 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Although, MYL3 mutations have been previously associated with adult-onset HCM, it has not been seen in infantile forms.
|
23594557 |
2013 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.
|
22131351 |
2012 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Human essential myosin light chain isoforms revealed distinct myosin binding, sarcomeric sorting, and inotropic activity.
|
21262909 |
2011 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
|
21239446 |
2011 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
|
21823217 |
2011 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Myosin light chain 3 gene (MYL3) mutation was associated with late-onset HCM with relatively poor prognosis; 1 sudden cardiac death and 2 cases of heart failure with atrial fibrillation occurred among 12 subjects with this mutation.
|
20641121 |
2010 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
|
19035361 |
2009 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
Hypertrophic Cardiomyopathy
|
0.480 |
Biomarker
|
disease |
BEFREE |
Pathogenic mutations (single nucleotide substitutions) in MYH7, MYBPC3, TNNI3, and MYL3 (six known and six novel) were identified in 60% (10/17) of familial HCM and 10% of sporadic cases (2/21).
|
18409188 |
2008 |
Hypertrophic Cardiomyopathy
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |