×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
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
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
CausalMutation
CLINVAR
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
19839986
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
CausalMutation
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
CausalMutation
CLINVAR
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
11139245
2001
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
12446365
2002
×
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
CausalMutation
CLINVAR
Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
27175573
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
The mutation detection rate in this study was 42% overall, but was only 12% in individuals not fulfilling the diagnostic criteria for MFS , suggesting that clinical overdiagnosis is one reason for the low detection rate observed for FBN1 mutation analysis.
12203992
2002
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome .
10425041
1999
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Photonic logic by linear unidirectional interference.
19293848
2009
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Ectopia lentis as the presenting and primary feature in Marfan syndrome.
21932315
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Epidermal growth factor. Location of disulfide bonds.
4750422
1973
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
27112580
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
19941982
2010
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
21135753
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Setting up CSGE analysis for the FBN1 gene and testing the method first by screening coded samples from 17 MFS patients with previously detected FBN1 mutations.
11826022
2002
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
22539340
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
19349279
2009
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
21594993
2011
×
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