×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.
25886484
2015
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
24915601
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations.
20627339
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Structural alterations of Lamin A protein in dilated cardiomyopathy.
23701190
2013
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties.
22893709
2012
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
12467752
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
GeneticVariation
disease
CLINVAR
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.
16218190
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
GeneticVariation
disease
CLINVAR
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
18585512
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
26084686
2015
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
GeneticVariation
disease
CLINVAR
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
14684700
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.
18396274
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.
22071332
2012
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Atlas of the clinical genetics of human dilated cardiomyopathy.
25163546
2015
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
15372542
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.
18031519
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
18585512
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
17377071
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
21151901
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
[Urinary incontinence in women is treated differently depending on the type].
2280636
1990
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.
26034236
2015
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
18035086
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
16061563
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.
18604166
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
19875404
2009