|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.
|
25262865 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.
|
19659763 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
|
19151713 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
|
25740977 |
2015 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
|
23140321 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
|
21959974 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
|
16858239 |
2006 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.
|
10736283 |
2000 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel custom resequencing array for dilated cardiomyopathy.
|
20474083 |
2010 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
|
12628722 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
|
12628722 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.
|
17521870 |
2007 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
|
24704860 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
|
28771489 |
2017 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
|
18957093 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection.
|
26671970 |
2015 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.
|
28087566 |
2017 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
|
18258667 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cardiac myosin binding protein C: its role in physiology and disease.
|
15166115 |
2004 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
|
7493026 |
1995 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |