Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
|
26854089 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Aortic dilation, genetic testing, and associated diagnoses.
|
26133393 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
|
25944730 |
2015 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
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 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
|
24804794 |
2014 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
GM-CSF contributes to aortic aneurysms resulting from SMAD3 deficiency.
|
23585475 |
2013 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome.
|
23272854 |
2013 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
SMAD3 deficiency promotes inflammatory aortic aneurysms in angiotensin II-infused mice via activation of iNOS.
|
23782924 |
2013 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
|
21217753 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
|
21778426 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
|
21778426 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
|
21217753 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
|
20101697 |
2010 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
|
15235019 |
2004 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling.
|
11779503 |
2001 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Cooperative binding of Smad proteins to two adjacent DNA elements in the plasminogen activator inhibitor-1 promoter mediates transforming growth factor beta-induced smad-dependent transcriptional activation.
|
10092624 |
1999 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|