78 results
In this study we aim to further characterize E/I balance (at different translational levels), and its relation to metabolic- and immune processes, clinical profiles, behavior and cognition
We hypothesize that the development of a follow-up program of unaffected mutation carriers will lead to early identification of disease and in the development of strategies to prevent the development of disease and successful treatment.
We aim to collect skin and blood cells from two to three WitKoS patients, reprogram these cells into iPSCs and use the iPSCs for differentiation into neurons/neural organoids to study the molecular underpinnings of WitKoS.
We aim to study the association between (clusters of) genes or genetic pathways and phenotype in a population of people with a rare genetic variant and a (suspected) ASD. We will do this by 1) describing the individual participant, 2) comparing…
- The development of blood-based tests, either platelet or EV-based, for the detection of (the type of) tumors in RB1-mutation carriers.- Determine the non-cancerous baseline in adult RB1-mutation carriers (heritable-Rb-survivors).- Contribute to…
To investigate the effects of GH treatment on body composition, psychosocial development, psychomotor development, growth, glucose metabolism, serum lipids, cognition, behaviour, bone mineral density, quality of life and safety parameters in…
To gain insight into the biological pathways that are influenced by the CEEx30/31 mutations.
Primary Objective: - To determine the rate of functional vestibular abnormalities in 22q11DSSecondary Objective: - To determine the rate of anatomical malformations of the inner ear in 22q11DS- To study the relation between vestibular functioning…
1. To further unravel biochemical abnormalities in SLS patients2. To study neuro-retinal changes over time to learn more about involved neurons and pathomechanism of ophthalmologic abnormalities in SLS patients 3. To study quality of life and daily…
The main objective of this (pilot) study is to investigate the role of glutamate in cognitive functioning in adults with 22q11DS using a glutamatergic challenge (riluzole )and high-field MRS. We will relate glutamate concentrations in the striatum…
To better understand the progression of early CF lung disease we aim to study lipid profiles and PMN dysfunction in relation to the severity of early lung disease in infants with CF, using BALF samples and peripheral blood. To optimally study these…
Our primary objective is to compare children with FXS with children with non-syndromic ASD, a developmental delay (DD) and typically developing (TD) children on three domains: ASD severity, cognitive abilities and (neuro)biological characteristics.…
Primary aim: to confirm that treatment with bumetanide improves daily life functioning and reduces behavioral symptoms related to hyperexcitability in children and adolescents with TSC.Secondary aim: to identify neurophysiological and cognitive…
To determine whether serum soluble VEGFR1 is also reduced in HHT2 patients and might be used as marker of disease severity.
The aims of this study are to1) To identify information processing deficits that can help explain predict communication impairments, language deficits, social problems and increased risk for psychopathology.2) To assess if lack of regulation of…
To identify which patient characteristics and biomarkers can contribute to a better prediction of complications in patients with thoracic aortic disease. This will result in better risk-prediction with reassurance of low-risk individuals and…
To provide further evidence for the role of long-term epigenetic effects of an extra chromosome 21 on HPT-axis associated genes as an explanation of DS associated thyroid phenotype, in a series of DS individuals in whom data on thyroid functioning…
- Using "Molecular Phenotyping" to increase diagnosis rate of MCA/ID patients with complex SV's- Discovery of pathogenic mechanisms and novel disease-associated genes in MCA/ID patients.With "molecular phenotyping" we will…