×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome .
8040326
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
A new missense mutation of fibrillin in a patient with Marfan syndrome.
8071963
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
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
UNIPROT
In conclusion, we were able to detect FBN1 mutations in 88% of patients with MFS and in 36% of patients with other fibrillinopathies type I, confirming that FBN1 mutations are good predictors of classic MFS .
18435798
2008
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS .
9016526
1997
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
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
UNIPROT
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
7951214
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
10441597
1999
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
1852208
1991
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1 ): SSCP screening of exons 15-21 in Marfan syndrome patients.
8004112
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
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
UNIPROT
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
8504310
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome .
1301946
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
14695540
2004
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
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
GeneticVariation
UNIPROT
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17657824
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Mutations of the fibrillin gene (FBN1 ) are known to cause classical Marfan's syndrome , ectopia lentis and neonatal Marfan's syndrome.
7870075
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
7762551
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
9452085
1998