12 results
Idenification of new Hirschsprung's disease associated genes.
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…
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…
The primary objective to our study is assessing functional outcome, quality of life, and genetic mutations in patients with a cloacal malformation. Functional outcome:- Colorectal functiono Objective: assessing colorectal function through the use of…
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…
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…
Evaluation of long-term complaints and problems on medical, surgical, psychological, social-emotional, conditional and motoric area in patients with one or multiple congenital malformations. More knowledge on long-term morbidity will lead to better…
To identify new genetic mutations that contribute to the development of Hirschsprung*s disease
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.
(1) To assess parent-child attachment and interaction in a cohort of children and adolescents known with IF and (a history of) home PN dependence, and (2) to assess cognitive development and social-emotional functioning in these children.
To investigate the relationship between body composition and parenteral nutrition in children with intestinal failure at 6 months corrected age. The ultimate goil of this study is to optimize the treatment of children with intestinal failure by…