339 results
The aim of this study is to determine whether male microchimerism is present in patients with MRKH syndrome. This would be a sign of intrauterine cell trafficking - and possible AMH transfer- from male to female co-twin. This placental blood…
PrimaryEffective treatment regimes and preventive tools of SIB in CdLS by studying phenomenology, etiology and pathogenesis.Secondary a. Development of a flow chart for daily care (diagnostics; management) b. Evaluation whether the present study can…
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 underpinnings of ADHD and its persistence into adulthood: Through studying genetic factors, in combination with genomic, microbiome, cell-based, neuroimaging, neuropsychological and psychiatric assessment we aim to gain more…
The aim of this project is to evaluate the clinical value of biomarkers in adult patients with congenital heart disease, in particular:1) quantify biomarkers of neurohormonal activity as NTproBNP, endotheline-1 and of immunological activity as CRP,…
The goal of this study is to collect and clinically characterize a large cohort of patients with hereditary retinal dystrophies in the Netherlands. The study cohort will be used to identify the genetic causes underlying these diseases, and 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…
Primary objective: 1) To examine the effect of IGSF1 deficiency syndrome on semen quality when compared to WHO reference ranges;2) The comparison of semen quality of these patients to that of healthy controls.To investigate the association between…
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…
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…
Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…
Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.
Area of interest (study setting): Specific aims:Transient triggers and chronic riskfactors (case-crossover and casecontrol)(1) To investigate frequency and strength of association between transient physical andpsychological triggers and early-onset…
(Primary) Determine whether measuring the expression level is a good functional test for confirming the genetic diagnosis in IRIDA by establishing the relation between the TMPRSS6 mRNA expression and the phenotype in IRIDA patients and their family…
The primary objective is to investigate the determinants of aortic root deformation occurring >= 3 months after successful ASO implantation in adult patients with an atrial septal defect.
The aim of this study is to investigate the relationship between atrial septal defects and airway responsiveness before and after percutaneous closure.
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.
To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.
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-…
The aims of this study are the ascertainment, characterization, and longitudinal follow-up of a large cohort of Dutch families segregating Parkinson*s disease, including affected and unaffected first-degree relatives. The cohort will be…