×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
21895641 2012
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms.
19720936 2009
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Genotype impacts survival in Marfan syndrome.
26787436 2016
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
16476890 2006
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
19012347 2008
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
25652356 2015
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation.
11700157 2001
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Molecular analysis of eight mutations in FBN1.
10647894 1999
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
17324963 2007
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
[Clinical and Genetic Characteristics of Russian Marfan Patients].
26410935 2015
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
21542060 2011
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta.
20699357 2010
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
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
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Marfan Database (third edition): new mutations and new routines for the software.
9399842 1998
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes.
12402346 2002
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
12511552 2003
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
17850668 2007
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Epidermal growth factor. Location of disulfide bonds.
4750422 1973
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes.
16222657 2005
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
12161601 2002
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
27611364 2016
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Although Marfan syndrome (MFS ) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings.
17663468 2007
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
24501682 2013
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.
10930463 2000
×
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
To elucidate the genotype to phenotype correlations, we engineered four Marfan syndrome causing mutations into a fibrillin-1 fragment encoded by exons 18-25, a region known to interact with tropoelastin.
16905551 2006