Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
|
28098115 |
2019 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
|
29357934 |
2018 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
|
27906200 |
2017 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
|
27884935 |
2017 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
|
28941062 |
2017 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
|
28973303 |
2017 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.
|
28855619 |
2017 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
|
28973303 |
2017 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype impacts survival in Marfan syndrome.
|
26787436 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype impacts survival in Marfan syndrome.
|
26787436 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
|
27175573 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
|
27112580 |
2016 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
|
26621581 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
|
27146836 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
|
27724990 |
2016 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
|
27112580 |
2016 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |