×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
31730815
2020
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
31730815
2020
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
28098115
2019
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
29357934
2018
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
27906200
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
27884935
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
28941062
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
28973303
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.
28855619
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
28973303
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Our MFS -hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation.
27893734
2017
×
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
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
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
27112580
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
27611364
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
26621581
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
27146836
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
27437668
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
27611364
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
27724990
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
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
GeneticVariation
CLINVAR
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
27437668
2016