Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.
|
26440512 |
2015 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.
|
22876777 |
2012 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy.
|
19645627 |
2009 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |