Condition: Cardiomyopathy, Familial Idiopathic


rs150793926 in CACNB4 gene and Cardiomyopathy, Familial Idiopathic PMID 29495422 2018 A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans.

rs1057515421 in LMNA gene and Cardiomyopathy, Familial Idiopathic PMID 10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

PMID 11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

PMID 12628721 2003 Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

PMID 12486434 2002 A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 12920062 2003 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

PMID 18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 15140538 2004 A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

PMID 16061563 2005 In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.

PMID 19167105 2010 Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.

PMID 14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

PMID 22177269 2012 The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).

PMID 24623722 2014 Systematic identification of pathological lamin A interactors.

PMID 24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 12920062 2003 A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM.

PMID 11897440 2002 Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

PMID 18564364 2008 Laminopathies in Russian families.

PMID 18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

PMID 18031519 2008 Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.

PMID 16061563 2005 We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).

PMID 21085127 2011 A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.

PMID 16061563 2005 We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).

PMID 11897440 2002 Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

PMID 12628721 2003 Mutations in LMNA were detected in four families (8%), three with familial (R89L, 959delT, R377H) and one with sporadic DCM (S573L).

PMID 11897440 2002 Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

PMID 15140538 2004 A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients.

rs6556795 in LOC105377703 gene and Cardiomyopathy, Familial Idiopathic PMID 29495422 2018 A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans.

rs4341082 in MGAM gene and Cardiomyopathy, Familial Idiopathic PMID 29495422 2018 A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans.