9 results
The above anounced studies suggest that some abnormalities in the Wnt pathway can be expected to affect development and function of the brain, potentially leading to recognizable behavioural phenotypes. Given the key role of APC in the Wnt pathway,…
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…
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…
Primary objectives1. What is the pulmonary function and exercise tolerance in children born with esophageal atresia at the age of 8-18 years (group I), determined by spirometry, measurement of lung volumes and a maximal exercise test. 2. What is the…
The aim of this study is to prospectively assess the occurrence of extra-intestinal manifestations in patients with MAP.
We aim to recognise potential genetic modifiers for mutations in PMS2. This will be approached through comparing a selection of CRC-related genes in the exome of members of a PMS2 family who differ in age of onset and severity of disease.
The primary objective of the CATCA-study is to develop a cfDNA based screening/surveillance tool for colorectal adenoma and cancer, both in the setting of the national CRC screening program and in the surveillance of LS carriers. Additionally, we…
The primary outcome of this study is the detection of clinical relevant adenomas (>= 5mm) in the ileal pouch.