Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.
|
27567161 |
2017 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
|
27481187 |
2016 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
|
26888179 |
2016 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
|
26153420 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
|
25759435 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.
|
24020716 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
|
25759435 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.
|
26034244 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
|
25944730 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.
|
24621862 |
2014 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
|
24243736 |
2014 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.
|
24998021 |
2014 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
|
24243736 |
2014 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cerebral arteriopathy associated with Arg179His ACTA2 mutation.
|
24293535 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
|
21937134 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
|
22752479 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
|
21937134 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.
|
22946110 |
2012 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
|
22831780 |
2012 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
|
21733706 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |