16 results
Primary Objective: To determine whether topical application of rapamycin can lead to reduction in size and/or number of fibrofolliculomas in BHD patients and may prevent the growth of new ones. Secondary Objectives: Safety, formula acceptability and…
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…
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 of the study is to examine the feasibility of measurements, program design and implementation adherence of a cardiovascular exercise program in persons with Down*s syndrome suffering from Alzheimer*s disease. Secondary…
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.
To include Dutch subjects in a Canadian study to establish the frequency of intergenerational CAG size changes for individuals with an intermediate allele (27-35 CAG) for Huntington disease. This will allow us to understand the evolution of HD…
The final aim of the study is the implementation of a test for the detection of fetal Down syndrome via noninvasive procedures, with the same characteristics as the tests that are currently being used (sensitivity and specificity). This test can…
To find out whether T4 treatment of Down syndrome newborns until the age of 2 years compared with placebo treatment results in better cognitive or motor development at the age of 10 years and 6-8 months, and whether it is safe with regard to nerve…
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 (…
The main objective is to assess the causational factors (genetic factors within r(X) or the marker chromosomes, genetic factors within the other X chromosome and genetic factors within the autosomes) in the development of mental retardation,…
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…