335 results
To identify chromosomal regions associated with the GERD-phenotype in a large multigenerational family with multiple affected members. Subsequently these regions will be sequenced to detect causative gene(s). The second aim is to describe the…
Optimalisation of genetic counseling for patients with breast cancer, by also making use of other ways to provide information than the personal consultation.
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
We would like to study whether aberrant heparansulfate synthesis in HME subjects leads to impaired glucose metabolism, dyslipidemia and subsequent increased cardiovascular risk as well as impaired adrenal gland function when compared to unaffected…
The aim of this study is to objectify nipple-areola complex sensitivity in women who underwent unilateral or bilateral prophylactic NSM in Erasmus MC-Daniel den Hoed Cancer Center and their satisfaction with this operation, compared to healthy women…
Main objective is to assess CFTR protein expression in nasal epithelial cells and in different peripheral blood immune cell subsets from CF patients with different CFTR gene mutations. Secondary objective is to correlate these expression levels with…
Primary: To measure the effect of a high protein diet on whole body protein synthesis and -breakdown, as well as on net whole body protein balance and production of urea in children after cardiac surgerySecondary: To measure the effect of a high…
Primary, to determine whether staining of the gastric mucosa increases the number of detected (pre)malignant foci of diffuse type gastric cancer, in individuals from families with FDGC as well as dysplastic, adenomatous and early intestinal cancers…
In patients long-term after AVSD correction the objectives are:1) To evaluate myocardial function using novel echocardiographic techniques.2) To study atrial en ventricular size and function in relation to quantification of AVV function with the use…
1. Developing novel approaches to determine the clinical significance of UVs. 2. Developing new clinical guidelines and implement them into clinical practice.
Cognitive testing in a structured and standardized way at a defined group of patients with cognitive dysfunction, with a shared molecular etiology .The intended objectives are:- Detailed human neurocognitive profile defining for each genetic defect…
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 investigate whether single dosis of fecal therapy by infusion of allogeneic (post bariatric surgery donor feces in the bowel) or autologous (own feces) have differential effect on lipid-metabolism-mediated insulin resistance.
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.
1. To assess whether microarchitectural alterations in the brain of different types of craniosynostosis patients are indeed primary.2. To assess local cerebral perfusion in craniosynostosis patients and its change after surgery.3. To understand the…
In this study, we will evaluate if these HME subjects are characterized by impaired postprandial lipid clearance compared to otherwise healthy control subjects
1) To identify chromosomal regions associated with the EoE-phenotype in a family with multiple affected family members. Subsequently these regions will be sequenced to detect causative gene(s).2) To describe the clinical characteristics of EoE-…
Primary objective of this study is the identification of familial germline mutations in SPS. Secondary objectives are to get a better insight in the molecular pathway of SPS and associated colorectal carcinoma, to discriminate those family members…
- 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.
Investigation of the prevalence of sinonasal disease on CT-sinus in children with Cystic Fibrosis at different ages. This study will focus especially on the onset of sinonasal pathology in Cystic Fibrosis in relation to the development of the…