×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections .
30101859
2018
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
GWASCAT
Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.
27418160
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1 , TGFβR1, TGFβR2 and ACTA2 genes.
24793577
2014
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection .
24743685
2014
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
Biomarker
disease
BEFREE
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections .
22772377
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
Fibrillinopathies include Marfan syndrome, familial ectopia lentis, familial thoracic aneurysm (mutations of FBN1 ) and congenital contractural arachnodactyly (mutation of FBN2).
22921888
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
Biomarker
disease
CTD_human
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21909107
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
GWASCAT
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21909107
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
GWASDB
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21909107
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA).
11826022
2002