Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes.
|
30690834 |
2019 |
Ehlers-Danlos Syndrome, Type IV
|
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 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
|
29551664 |
2018 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
|
28183226 |
2017 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1.
|
28742248 |
2017 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
|
28102592 |
2017 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
|
26888179 |
2016 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.
|
27306637 |
2016 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
|
26497932 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
|
25758994 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
|
25758994 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation identified in this study is potentially responsible for Ehlers-Danlos syndrome type IV in this patient, and expands the spectrum of COL3A1 mutations.
|
25776230 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
|
26497932 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
|
24922459 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
|
25355833 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
|
24922459 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
|
24399159 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
|
24399159 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.
|
23688910 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
|
24922459 |
2014 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report.
|
23374456 |
2013 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
|
23489429 |
2013 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
|
22492385 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.
|
22235340 |
2012 |