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 |
Biomarker
|
disease |
CLINGEN |
Smooth muscle cell-specific Tgfbr1 deficiency promotes aortic aneurysm formation by stimulating multiple signaling events.
|
27739498 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
|
27146836 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
|
26188975 |
2015 |
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 |
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.
|
25110237 |
2014 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
|
24355923 |
2014 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
|
24793577 |
2014 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.
|
25521989 |
2014 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TGFβ receptor mutations impose a strong predisposition for human allergic disease.
|
23884466 |
2013 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
|
22414221 |
2012 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
|
22414221 |
2012 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
|
21267002 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
|
21358634 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
|
19542084 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
|
19542084 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Aortic dissection in a young man with Loeys-Dietz syndrome.
|
18455604 |
2008 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
|
18781618 |
2008 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
|
18781618 |
2008 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
|
16928994 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
|
16791849 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
|
16596670 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
|
16791849 |
2006 |