|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
|
21949523 |
2011 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
|
20101701 |
2010 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
|
20358619 |
2010 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
|
19883511 |
2009 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
|
16251899 |
2006 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
|
16027248 |
2005 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterozygous TGFBR2 mutations in Marfan syndrome.
|
15235604 |
2004 |
|
Aortic aneurysm, familial thoracic 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Loeys-Dietz Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
TGFβ receptor mutations impose a strong predisposition for human allergic disease.
|
23884466 |
2013 |
|
Loeys-Dietz Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
|
21098638 |
2010 |
|
Loeys-Dietz Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
|
19875893 |
2009 |
|
Loeys-Dietz Syndrome
|
|
0.710 |
CausalMutation
|
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 |
|
Loeys-Dietz Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
|
17330129 |
2007 |
|
Loeys-Dietz Syndrome
|
|
0.710 |
CausalMutation
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
|
23103230 |
2012 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
|
21098638 |
2010 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
|
Uranostaphyloschisis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome - consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula - was present in all 6 cases.
|
19875893 |
2009 |