453 results
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-…
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. Identification of gene(s) causing RS. 2. Understanding of the molecular and cellular mechanisms leading to the various manifestations of RS.3. Enabling molecular diagnostics for RS.
The objective of the study is to identify genetic causes of developmentalanomalies of the face and skull (craniofacial anomalies), such as orofacial clefting, craniosynostosis, abnormal dental development and rare craniofacial syndromes.
Primary Objective: The painscores regarding abdominal pain among women with primary outflow obstruction in comparison with an age matched control group.Secondary Objective(s): The prevalence of sexual problems due to the congenital anomalies or the…
To investigate whether the peripheral nervous system is involved in paroxysmal neurological conditions.
To phenotype and genotype the population of patients with IVF in our cohort, and to find alternative diagnoses as a cause of the event of VF.
Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically-confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
To determine the appropriateness of scale content of the preliminary CLEFT-Q scales by age and culture and to identify unclear or ambiguous items, instructions and response options
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):…
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…
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…
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…
We aim to assess gene expression patterns in cilia-producing cells from healthy controls to develop a candidate gene list for PCD.
Main: To confirm the findings of our previous, explorative study that the overall FXI plasma levels in patients with menorrhagia are lower than in controls. Secondary: To establish the prevalence of FXI mutations/polymorfisms in patients with…
To gain insight (1) into psychological functioning of couples where one partner is carrier of HD and who have PGD child(ren); and (2) into the family interactions in these families.
To identify new genetic mutations that contribute to the development of Hirschsprung*s disease
To elucidate the molecular mechanisms underlying renal disease that lead to chronic kidney disease. To validate pathogenic variations in functional in vivo models.
Long term follow up is lacking in this database. A follow up study in which patients in the database are invited to a follow up exam and imaging would be a much more complete picture of the development of TLK in achondroplasten.
The purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…