rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
9254848
1997
rs137854480
×
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
rs137854480
×
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
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
11826022
2002
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Guidelines for the diagnosis and management of Marfan syndrome.
17188935
2007
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
7738200
1995
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
10441597
1999
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
14695540
2004
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
Ectopia lentis phenotypes and the FBN1 gene.
15054843
2004
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
15184297
2004
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
15161917
2004
rs137854480
×
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
rs137854480
×
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
rs137854480
×
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
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
19293843
2009
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
Marfan Database (third edition): new mutations and new routines for the software.
9399842
1998
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A new missense mutation of fibrillin in a patient with Marfan syndrome.
8071963
1994
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
11700157
2001