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Molecular basis of refractory constipation in children

The aim of the present study is to identify genes associated with functional constipation in a homogeneous subgroup of children responding to sacral neuromodulation by performing whole exome sequencing in both children and their parents and to…

Molecular studies in a multigenerational family with gastro-esophageal reflux disease (GERD)

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…

Screening for Familial Gastric Cancer in first degree relatives

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…

Molecular studies in a family with eosinophilic esophagitis (EoE)

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-…

Gastroschisis: identification of hereditary and nonhereditary risk factors

1. To assess the prevalence of structural, and dysmorphological abnormalities in a cohort of patients with gastroschisis.2. To identify possible candidate genes for gastroschisis by analysing the genes involved in copy number abnormalities in…