35 results
Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.
The aim of the study is to evaluate whether these three genetic characteristics are able to predict the susceptibility to joint damage in haemophilia patients. Therefore we want to determine the association between the progression of radiographic…
The aim of the study is to understand the nutritional status of people with complex multiple disabilitiest through measurement of body composition and nutritients.The primary objective of the study is:What percentage of people with complex multiple…
How is the genetic expression of EXT1 and EXT2 in our HME/MO population and how does this related to the severity of the disease.
The present proposal aims at detecting the pathogenesis of keloids in RTS by studying 50 RTS individuals from 3 countries (Netherlands, Norway, UK) with keloids clinically, and take 3 biopsies in 5 of them from normal skin, edge of normal skin-…
Analyze processes related to DNA-damage in oocyte development and early-developmental stage embryos from BRCA1/2-mutation carriers compared to controls, using immunohistochemistry and RNA-Seq technology.
The main purpose of the proposed naturalistic pilot study is to compare postsynaptic DA receptor binding (reflecting synaptic DA concentrations) and brain Phe levels in PKU adults with lower blood Phe levels with PKU adults with higher blood Phe…
The aim of the study is to identify genes that cause early onset Alzheimer dementia, dementia with Lewy bodies and frontotemporal dementia.
The aims of this pilot study are to describe the nutritional status of a well-defined group of Dutch RTT girls with complete clinical, molecular and neurophysiological work-up (full description is presented in the section *study population*) and to…
To find out the fate of aneuploid blastomeres
The aim of this study is to confirm previous findings and examine the functionality of the creatine transporter in RTT girls, at which mutation analysis of the SLC6A8 gene (as a possible cause of an altered functionality of the creatine transporter…
1. To investigate whether transmission of P. aeruginosa strains between CF patients occurs during a 1 day open air event and if so, whether there are patient-factors contributing to transmission. 2. To evaluate whether transmitted strains persist…
In the present study we aim to identify the genetic modifiers in this family which underlie differences in severity and type of phenotype by means of linkage analysis.
a. analysis of the usefulness of new molecular biological techniques in the diagnostic process of short stature, especially the detection of small chromosomal anomalies.b. identification of genetic factors causing short stature or influencing the…
The main objective of the study is to reach an etiological diagnosis in as many cases of a selected group of MR patients. The aim is to do so in at least 15-20% of hitherto unexplained MR.Also an objective is the establishment of a genetic-…
This study aims to determine whether variations in genes encoding the most important components of the innate immune system (gene polymorphisms), play a role in the susceptibility to recurrent vulvovaginal candidiasis.
The aim of our project is to develop a test that identifies FAP patients with a high risk to develop desmoids. In a recent study, a so-called wound-response gene expression signature was developed on the basis of serum stimulation of fibroblasts in…
What is the contribution of the different variations in the C1-inhibitor gene to the disease AMD?
1. To what degree are the type of social difficulties similar or different in children with Klinefelter syndrome, Turner syndrome and autism?2. Which cognitive dysfunctions are most strongly related to social difficulties in these different clinical…