rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029
2019
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
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
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
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
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
22772377
2013
rs137854480
×
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
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
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
The revised Ghent nosology for the Marfan syndrome.
20591885
2010
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
0.800
GeneticVariation
UNIPROT
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
19533785
2009
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
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17657824
2007
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
A
0.800
CausalMutation
CLINVAR
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
18079676
2007
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
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
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
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
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
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
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
A
0.800
CausalMutation
CLINVAR
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
12446365
2002