78 results
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…
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.
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.
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 objective of this study is to evaluate a new and less invasive method of PGS. The new PGS technique will analyse a nucleus of a blastomere that was obtained by nuclear extraction rather than by biopsy of a whole blastomere.
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-…
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.
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…
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 (…
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…
The main objective of this study is to investigate the relation between Cx40 polymorphism and protein expression in the general population and patients without a history of AF.
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…