38 results
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…
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…
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…
Identification of the causative gene for CSBS.
Cognitive testing in a structured and standardized way at a defined group of patients with cognitive dysfunction, with a shared molecular etiology .The intended objectives are:- Detailed human neurocognitive profile defining for each genetic defect…
In this study, we will evaluate if these HME subjects are characterized by impaired postprandial lipid clearance compared to otherwise healthy control subjects
We would like to report a case of an extra-oral manifestation of a White Sponge Nevus (WSN). The purpose of this study was to document a family spanning 6 generations with WSN. It is important to recognize to allow for appropriate genetic counseling…
1. What is the somatosensory profile of DM2 patients?2. What are the similarities and differences between the somatosensory profile of pain in myotonic dystrophy type 2 and fibromyalgia patients?
We aim to obtain more insight in the pathogenesis of DS and the potential role of methylation in this by a small initial study (proof of principle). If the study shows a potential role of disturbed methylation in DS pathogenesis we will subsequently…
To investigate the effect of resistance to thyroid hormone (RTH) due to a TRβ mutation on coagulation and fibrinolysis
To study:The effect of treatment with PPAR-* agonists on clinical features of FPLD To compare the monocytic (M1/M2) phenotype (peripheral and adipose tissue) of patients with FPLD - to controls - before and after treatment with PPAR* agonists.To…
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 primary objective is whether a difference in innate and acquired immunorespons on RSV infection exists, in children with DS compared to healthy matched-controls.
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.
The aim of the study described in this protocol is the identification of genes involved in aortic aneurysm development. This will be achieved by characterization of large AA families, including pedigree investigations, diagnostic measurements (…
More knowledge about the clinical aspects of the FMR2 gene mutation can complete the couseling. Carriers with the desire to start a family can take the chance on POF in consideration. The clinical symptoms of FXTAS can be differentiated from other…
The major aim of this project is to elucidate the molecular basis of IgAN. A large cohort of IgAN patients will be screened on aberrancies in the DNA sequence or expression of the gene encoding Cosmc, a protein that is essential for the biosynthesis…
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…