Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
|
19159394 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
|
19996017 |
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 |
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.
|
18827873 |
2008 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
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 |
CausalMutation
|
disease |
CLINVAR |
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
|
17935258 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
|
19006214 |
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 |
CausalMutation
|
disease |
CLINVAR |
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
|
18084123 |
2007 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.
|
17652900 |
2007 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
|
16799921 |
2006 |
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 |
CausalMutation
|
disease |
CLINVAR |
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
|
16251899 |
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 |
Biomarker
|
disease |
CLINGEN |
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.
|
16885183 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
|
16251899 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
|
16027248 |
2005 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
|
16027248 |
2005 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Heterozygous TGFBR2 mutations in Marfan syndrome.
|
15235604 |
2004 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Heterozygous TGFBR2 mutations in Marfan syndrome.
|
15235604 |
2004 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
|
12821554 |
2003 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Transforming growth factor beta in cardiovascular development and function.
|
12948523 |
2003 |