78 results
Our project focuses on the function of transporters and deiodinases in the (dys)regulation of intracellular T3 levels in patients with psychomotor retardation and abnormal serum thyroid hormone levels. The main objectives of our study are:1. To…
An explanation of the complete spectrum of anomalies seen in fetuses with increased NT could be a disturbed endothelial differentiation related to the cardiovascular development. Cardiac defects form the severe end of the spectrum. More data, both…
The main objective is to identify a difference in mRNA expression level of IFN and IFN related genes between Down Syndrome children and a control group of healthy children (siblings). The secondary objective is to identify a relationship between…
The primary goal of this research project is the identification of genes involved in causing mental retardation. These genes will be part of genetic networks that play a role in normal brain development and function. With up-to-date bioinformatic…
To assess the skeletal health of FAP patients.
With this study we want to identify the common aetiology and neurobiology of EFD, by employing pharmacological and genetic imaging in three neuropsychiatric disorders. We want to identify an underlying functional and structural model for EFD,…
To determine the variability of cognitive features in NF1 and TSC in the absence of genetic variability.
The main objective of the study is to investigate the effect of a heparan sulphate glycosaminoglycan deficiency on the glomerular filtration barrier in humans. This main objective is approached through the secondary objectives of assessing whether a…
The main aims of our study are 1) to make a clinical inventory of MD cases, 2) to identify (modifier) disease genes underlying MD and 3) to link the clinical data with the genetic data in a data-base.
We aim to obtain more insight in the pathogenesis of DS. This replication study will focus on molecular determinants suchs as methylation and gene transcription. In addition, we will collect phenotypic information and link this with information…
Primary Objective: To identify the variability in the circulation of the number of patrolling monocytes and their expression of CX3CR1 obtained from adult ZZ-AATD patients compared to spouse controls.Secondary Objective(s): (1) To identify if low…
Our research aims to establish informative tools in the laboratory for studying the molecular and cellular pathways that are altered in SETBP1 disorder.
To describe cognitive profile and psychopathology in adults with 22q11 CNV disorders.
The objective of this study is to describe cognitive profile and dimensions of psychopathology in subjects with CNV disorders.
Primary objectives:To prospectively assess longitudinal changes in Proteolipid Protein 1 (PLP1) and additional disease-related biomarkers in cerebral spinal fluid (CSF) and blood and evaluate their utility in support of the development of therapies…
The role of glutamate and GABA in cognition in subjects with chromosome 22q11.2 copy number variants
The main objective of this study is to investigate the role of glutamate and GABA in cognition in healthy subjects with 22q11.2 CNVs and healthy subjects without 22q11.2 CNVs using high-field Magnetic Resonance Spectroscopy (MRS). Additionally, we…
The aims of this study are:1. To describe the neuropsychiatric profiles associated with DDX3X syndrome, SETD1A syndrome, Koolen-De Vries syndrome, KBG syndrome, DYRK1A syndrome, Jansen-De Vries syndrome, Gabriele-De Vries syndrome, and Smith-Magenis…
To determine whether a standardized exercise workload elicits a different response on 1) metabolites/cardiac biomarkers in the general circulation (measured by blood values), and 2) contraction patterns in local myocardium (measured by…
1. Provide post-trial access to bumetanide treatment for NDD participants.2. To test how bumetanide cohort data compare to the existing RCT data in terms of treatment effectiveness by using randomization tests. 3. To further develop EEG biomarker…
- To assess platelet (dys)function in adults with 22q11.2DS and its association with bleeding history.- To identify alterations in metabolic pathways in 22q11.2DS that may be of relevance to mechanisms underlying neurodevelopmental and…