|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
|
24399159 |
2014 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
|
22492385 |
2012 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
|
22038052 |
2012 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
CLINVAR |
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
|
18043893 |
2008 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.
|
12694234 |
2003 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
|
12786757 |
2003 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
|
10923041 |
2000 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
|
10706896 |
2000 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
|
10706896 |
2000 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
|
9452103 |
1998 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
|
9036918 |
1997 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
|
8990011 |
1997 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
|
8884076 |
1996 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
|
8664902 |
1996 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
|
7749417 |
1995 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
|
7912131 |
1994 |
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
|
8019562 |
1994 |