277 results
The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…
Primary Objective: To define a top set of genes that most reliably (r >=0.95) distinguish psoriasis from normal skin. We will define this set from differential methylation genes to indicate potential biomarkers.Secondary Objective(s):…
The overall aim of the study is to improve diagnostic and therapeutic options for people with CF, especially in the context of young children and novel CFTR-targeting drugs. Primary Objective: 1. to demonstrate relations between CFTR genotype,…
To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.
The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…
The study comprises 2 parts.Part 1: Primary: to assess sexual functioning, sexual self image and psychological and relational functioning in MRKH women with surgical or non- surgical created neovaginas and their partners and make a comparison with…
Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.
Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…
Firstly, comparison of DTI outcome variables between the auditory nerve of a deaf ear with that of a normal ear. Secondly, in patients who receive a CI, DTI measures will be compared to measures derived from electrically evoked compound action…
The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…
Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…
The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
The primary objective is to measure the longitudinal changes of PDE10A enzyme availability in the caudate, putamen, and globus pallidus of Huntington*s Disease Gene Expansion Carrier (HDGECs) by comparison of the follow-up and initial Positron…
Primary objective- Short- and mid-term repeatability of mDLS and LSCI measures;- Comparison of blood flow obtained by LSCI and blood flow obtained by mDLS;- Comparison of coagulation status obtained by mDLS and coagulation status assessed by…
The primary objective is to assess neuropsychological function in X-ALD patients without active cerebral demyelinating disease. Data of minors will be compared to matched healthy controls. Data of adults will be compared to reference values. The…
The BAV study is a clinical and genetic study to unravel biomarker and imaging predictors of adverse outcome and to explore the pathogenetic basis of bicuspid aortic valves and it*s associated pathologies. We will also deliver insights in the…
To investigate the origin of BA we will assess which TLR(s) is/are activated. To test the hypothesis that during development of BA and associated liver fibrosis there is a *leaky gut* and/or a change in microbiome we will use human material to…
Primary Objectives:- Determine the effect of pulmonary vasodilatation on indexed cardiac output during simulated exercise.- Characterization of structural properties of small pulmonary arteries.Secondary Objectives: - Investigate the effect of…
Investigate the association between BRCA1/2-mutations, DNA damage, apoptosis and oocyte/embryo quality in immature germinal vesicle (GV) bearing oocytes, immature metaphase 1 (MI) and unfertilized mature metaphase 2 (MII) oocytes and affected early-…
To measure the 18F-fluoride activity of otosclerosis in patients diagnosed with otosclerosis (by audiometry, CT scan and/or operative findings) in a different stage of their disease. If this diagnostic proves to be reliable and reproducible, this…