rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
7870075
1994
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
12203992
2002
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
8909500
1996
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
22772377
2013
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
19941982
2010
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
8281141
1993
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Guidelines for the diagnosis and management of Marfan syndrome.
17188935
2007
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
0.800
GeneticVariation
CLINVAR
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
16222657
2005
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
16220557
2005
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
0.800
CausalMutation
CLINVAR
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
15241795
2004
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
0.800
CausalMutation
CLINVAR
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
27437668
2016
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
8406497
1993
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
24882528
2014
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17657824
2007
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
11826022
2002
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
0.800
CausalMutation
CLINVAR
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
21542060
2011
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
10425041
1999
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
0.800
CausalMutation
CLINVAR
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
27611364
2016
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
25173340
2014
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
11700157
2001