38 results
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.
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…
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.
1. Clinical characterisation of manifestations of aging in the affected individual.2. Understanding of the molecular and cellular mechanisms leading to the manifestations in this affected individual.
This study aims to gain more insight in the sexual development of adolescent boys with ASDs.The main research question is: How do high functioning boys with ASD develop sexually? The main research question is worked out in 2 parts/1. Which sexual…
The purpose of this study is to contribute to the knowledge of feeding problems in infants with CL, CP and CLP. Our evidence based results can help clinicians, involved in the care of cleft patients, in providing proper information and professional…
To unravel the genetic makeup of colorectal cancer (CRC) in adolescents and young adults (AYAs) in order to improve genetic counseling, surveillance and, ultimately, treatment and disease outcome.
To detect high-risk pathogenic mutations in germline DNA of children with childhood cancer that are suggestive of genetic predisposition, using NGS-based whole-exome sequencing, resulting in novel targets for future functional and translational…
Our first aim is to find the cause of Parry-Romberg syndrome. The subsequent aim is to study the pathogenesis of the entity. The final aim is to find an effective management for the disorder.
Assembly of a large sample of patients/families with nonsyndromic oro-facial clefts from Central Europe for identification of genetic factors responsible for this phenotype by usage of association and linkage disequilibrium studies.
The purpose of the present study is to try to classify autistic children into distinct subgroups, by clinical morphological examination. We mainly want to answer the following questions: 1) Is there an increased prevalence of minor anomalies in…
1,detection of the gene causing Pierpont syndrome2. study of the molecular and cellular mechanisms leading to the various manifestations of Pierpont syndrome3. better understanding of the regulation of subcutaneous fat depositions
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…
To characterize the dyslipidemias and their consequences in carriers of mutations in glycosylation genes.
The aim of this study is to invite a new cohort of CADASIL patients for a 7 Tesla MRI scan. By doing this, we aim to get more insight into the pattern and development of cortical atrophy and vessel wall thickening in CADASIL patients of different…
The primary objective of the PRIDE Study is to identify factors to which a woman is exposed during her pregnancy that have an influence on the health status of the mother and/or her (unborn) child. In addition, the evaluation of preconception,…
1. Further delineation of four newly identified tumor predisposition syndromes in childhood cancer patients using 3D-analysis of facial morphology. 2. Identification of molecular genetic defects responsible for the tumor predisposition syndromes…
To determine the normal ferritin level in the anterior chamber, and to compare this with the ferritin level in HHCS patients.