Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized
by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus …
by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus …
The 2017 international classification of the Ehlers–Danlos syndromes
F Malfait, C Francomano, P Byers… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …
Features of Marfan syndrome not listed in the Ghent nosology–the dark side of the disease
Y von Kodolitsch, A Demolder… - Expert review of …, 2019 - Taylor & Francis
ABSTRACT Introduction: The revised Ghent nosology presents the classical features of
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%(refs.,). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
Clinical validity of genes for heritable thoracic aortic aneurysm and dissection
Background: Thoracic aortic aneurysms progressively enlarge and predispose to acute
aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying …
aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying …
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing
Aims The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS)
probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing …
probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing …
[HTML][HTML] Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
KL Thomson, E Ormondroyd, AR Harper, T Dent… - Genetics in …, 2019 - Elsevier
Purpose Increasing numbers of genes are being implicated in Mendelian disorders and
incorporated into clinical test panels. However, lack of evidence supporting the gene …
incorporated into clinical test panels. However, lack of evidence supporting the gene …
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
MJ Hamilton, RC Caswell, N Canham, T Cole… - Journal of medical …, 2018 - jmg.bmj.com
Introduction Recent evidence has emerged linking mutations in CDK13 to syndromic
congenital heart disease. We present here genetic and phenotypic data pertaining to 16 …
congenital heart disease. We present here genetic and phenotypic data pertaining to 16 …
[HTML][HTML] European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic …
IMBH van de Laar, E Arbustini, B Loeys… - Orphanet journal of rare …, 2019 - Springer
The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the
contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 …
contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 …
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders
JMG Evers, RA Laskowski, M Bertolli… - Human molecular …, 2017 - academic.oup.com
Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome,
though the mechanism of action of pathogenic missense mutations is currently unclear. Here …
though the mechanism of action of pathogenic missense mutations is currently unclear. Here …