15 results
To increase our understanding of the developmental significance of chromosomal mosaicism in preimplantation embryos by investigating their implantation potential and the fate of abnormal cells after an in vitro implantation procedure.
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.
The primary objective is to determine the pharmacokinetic characteristics of galantamine after 2 single oral doses in children with Down syndrome. Secondary objectives are to evaluate safety and tolerability.
This study aims to establish the effectiveness of web-based counselee-tailored information plus question prompt designed to 1) increase realistic expectations of breast cancer genetic counselling, 2) facilitate participation, question asking and…
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.
In this study we aim to compare the effect of two different ovarian stimulation protocols on embryo quality in a group of women of 39 years or younger, in a prospectively randomized controlled trial. PGS will be performed to assess chromosomal…
Does antagonism of the adenosine receptor by caffeine lead to an increased LPS-induced inflammatory reaction and an increase in (subclinical) tissuedamage?Does the C34T-polymorphism of the enzyme AMP-deaminase lead to a decreased inflammatory…
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…
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…
To prospectively evaluate the feasibility and effectiveness of surveillance of individuals at high-risk for developing pancreatic cancer, in order to detect non-symptomatic (early) neoplastic lesions at a stage when curative resection is still…
Pathogenic, non-truncating TSC1 and TSC2 mutations can be distinguished from non-pathogenic changes by studying their effects on the TSC1-TSC2 protein complex, and on splicing of the TSC1 and TSC2 mRNAs. Functional characterisation of unclassified…
To test the hypothesis whether the Intima Media Thickness differs between FH carriers without apparent dyslipidemia and the group of FH carriers with apparent dyslipidemia and a control group consisting of persons tested by the StOEH who did not…
Primary aims:1. To perform a population-based screen to estimate the exact frequency ot transient leukemia in Dutch newborns with Down syndrome2. To investigate the realtionship between transient leukemia and the occurrence of DS ML and ALL at later…
With this study we want to identify the common aetiology and neurobiology of EFD, by employing pharmacological and genetic imaging in three neuropsychiatric disorders. We want to identify an underlying functional and structural model for EFD,…