54 results
The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…
Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…
To compare discrimination ability for touch and temperature between subjects with Down*s syndrome and healthy controls. To compare thermal pain thresholds between subjects with Down*s syndrome and healthy controls
Optimalisation of genetic counseling for patients with breast cancer, by also making use of other ways to provide information than the personal consultation.
To determine the variability of cognitive features in NF1 and TSC in the absence of genetic variability.
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…
To investigate the relation between a known genetic variation in a set of selected genes involved in the recognition of microorganisms and inflammation and the frequency of respiratory tract infections in a group of children with DS.
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…
Objective of the study: The main objective of this study is to investigate the influence of different genetic mechanisms (risk genes, CNVs and gene expression profiles) in ASD and to study the relation between the genetic heterogeneity and specific…
The aim of this study is to measure dopaminergic metabolic outcomes in people with VCFS and pre-existing or acquired cognitive impairment. Particularly we are interested in the dopaminergic neurotransmission related to the COMT genotype.
Riskreduction of developing breast carcinoma by means of better surgical techniques (removing all normal breast tissue).
The aim of the present experiment is to test whether the normally right-lateralised response to emotional prosody is reduced in KS.
To assess the skeletal health of FAP patients.
Main: To confirm the findings of our previous, explorative study that the overall FXI plasma levels in patients with menorrhagia are lower than in controls. Secondary: To establish the prevalence of FXI mutations/polymorfisms in patients with…
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…
We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…
1) To investigate the underlying mechanisms of the variable ADH phenotypes in two extreme ADH populations. - Genetically homozygous patients with a phenotype resembling the phenotype encountered in heterozygous ADH patients. - Genetically…
The primary objective is whether a difference in innate and acquired immunorespons on RSV infection exists, in children with DS compared to healthy matched-controls.
1. How functions the dopaminergic neurotransmission in adult patients with VCFS who are functioning on an intellectual level of moderate to severe impairment (IQ < 55) by a) a strong cognitive decline or b) a premorbid level of functioning.2…