341 results
Objectives: 1. To investigate the types of antitrombin deficiency in these families2. To find the mutations in our families/patients with antitrombin deficiency.3. To establish the risk of VTE due to these mutations and subtypes.(comparing…
- To assess the burden of disease of congenital CMV infection in the Netherlands at the age of 5 to 6 years through the assessment of the occurrence of sensorineural hearing loss due to congenital CMV infection.- To establish the burden of disease…
To gain a better insight into the genetic factors that play a role in the etiology of the thoracic aortic aneurysm with the following specific aims:1. Study of specific geneitc factos that play a role in the pathogenesis of both syndromic and non-…
1. Validation - of an independent geneset - of TLA technology as a new DNA diagnostic test for complete sequencing of selected genes.2. The search for structural chromosome changes in patients with ROW disease who where tested negative for mutations…
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…
To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder
Identification of the underlying genes of MMIHS
The main objectives are 1) is to evaluate the prevalence of cardiac complications long-term after ASO by investigation of cardiac function as well as clinical outcome and to determine which factors (associated with life style or operative techniques…
The main object is to evaluate the validity of a diagnostic screening package for bleeding tendency consisting of point-of-care devices when compared with the gold standard for bleeding tendency diagnosis.Other objects which will be investigated are…
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):…
To evaluate the clinical usefulness of the VU-AMS in pediatric cardiology.To validate and improve the measures of stroke volume from the VU-AMS device in a clinical population. VU-AMS stroke volume measures will be compared with stroke volume…
1. To investigate the differences between healthy older adults with and without cognitive complaints (SCI) and MCI patients in: a) resting state functional connectivity; b) brain structure; and c) cognitive function. 2. To investigate longitudinal…
1. To identify presymptomatic and symptomatic profiles including (early) disease stages and early biomarkers of disease progression and to elucidate pathophysiological mechanisms, we will investigate RVCL patients at different ages (both symptomatic…
1. To assess neuroimaging hallmarks of RVCL disease stages;2. To evaluate cerebrovascular reactivity as a biomarker of endothelial (dys)function in RVCL patients, in migraine patients and healthy controls;3. To identify shared pathophysiological…
Our primary objectives are:- to estimate the prevalence of central adrenal insufficiency , defined as a plasma cortisol response <500 nmol/l in the low-dose ACTH test (see paragraph 8.3.5 of the protocol). - to describe immune dysfunction, i.…
The main objective of this study is to test the feasibility of using DTI in combination with tractography to visualize differences between a degenerated and normal auditory nerve.
- The primary research objective is to estimate the prognosis of children affected by ICL. - A secondary research objective is to explore the heredity of ICL between first degree family members.
1. To determine if auto-antibodies against the re-expressed protein exist in the peripheral circulation in patients with EB and revertant mosaicism and compare this incidence to the group of patients with EB and without revertant mosaicism. 2. To…
To confirm that previous or persisting infection with Chlamydia is associated with the development of perinatal biliary atresia. Furthermore to investigate whether the Chlamydia infection is contracted by vertical transmission from the mothers.