145 results
The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…
Primary Objective: To define a top set of genes that most reliably (r >=0.95) distinguish psoriasis from normal skin. We will define this set from differential methylation genes to indicate potential biomarkers.Secondary Objective(s):…
To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.
Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.
The BAV study is a clinical and genetic study to unravel biomarker and imaging predictors of adverse outcome and to explore the pathogenetic basis of bicuspid aortic valves and it*s associated pathologies. We will also deliver insights in the…
To investigate the origin of BA we will assess which TLR(s) is/are activated. To test the hypothesis that during development of BA and associated liver fibrosis there is a *leaky gut* and/or a change in microbiome we will use human material to…
Primary Objectives:- Determine the effect of pulmonary vasodilatation on indexed cardiac output during simulated exercise.- Characterization of structural properties of small pulmonary arteries.Secondary Objectives: - Investigate the effect of…
Investigate the association between BRCA1/2-mutations, DNA damage, apoptosis and oocyte/embryo quality in immature germinal vesicle (GV) bearing oocytes, immature metaphase 1 (MI) and unfertilized mature metaphase 2 (MII) oocytes and affected early-…
To investigate whether patients with hemophilia A develop less coronary artery atherosclerosis as compared to non-hemophilic males.
The primary objective of this study is to identify mutations associated with the development of a bicuspid aortic valve. To this end the study will focus on genes important for aortic valve formation. As an extension of the primary objective, a…
In this study the prevalence and kind of sexual and psychosexual problems will be assessed. Psychological well being is studied as well
The purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…
To explore the use of exome sequencing in the diagnostic evaluation of patients with severe microcephaly
The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.
To identify chromosomal regions associated with the GERD-phenotype in a large multigenerational family with multiple affected members. Subsequently these regions will be sequenced to detect causative gene(s). The second aim is to describe the…
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
To elucidate the molecular mechanisms underlying renal disease that lead to chronic kidney disease. To validate pathogenic variations in functional in vivo models.
1. The application of 4D flow MR imaging to analyse blood flow patterns (flow angle, flow asymmetry), regional vessel wall parameters (regional wall shear stress, vessel wall thickness) and pulsed-wave velocity in neoaortic root, carotid artery and…
To determine the variability of cognitive features in NF1 and TSC in the absence of genetic variability.
Our objective is to obtain insight into whether and how the visual and auditory systems of hemispherectomized patients have adapted after brain damage and brain surgery in early life. For this purpose we will perform psychophysical tests and (…