25 results
Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…
Optimalisation of genetic counseling for patients with breast cancer, by also making use of other ways to provide information than the personal consultation.
The aim of this study is to evaluate an intervention aimed at improving family disclosure of inherited cancer risks by 1) supporting counselees in what they experience as a necessary, but at times difficult, task and, consequently 2) provide more at…
1. Developing novel approaches to determine the clinical significance of UVs. 2. Developing new clinical guidelines and implement them into clinical practice.
Primary Objective: Analyse the behavioural response of individuals with Down's syndrome directly after a painful dental stimulus and compare this with video-analysed behaviour.Secondary Objective(s): 1) Determine which observational scale can…
A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease
The objectives of this study are (1) to document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease; and (2) to provide a reference group for comparison with interventional…
To increase our understanding of the developmental significance of chromosomal mosaicism in preimplantation embryos by investigating their implantation potential and the fate of abnormal cells after an in vitro implantation procedure.
This study aims to establish the effectiveness of web-based counselee-tailored information plus question prompt designed to 1) increase realistic expectations of breast cancer genetic counselling, 2) facilitate participation, question asking and…
In this study we aim to compare the effect of two different ovarian stimulation protocols on embryo quality in a group of women of 39 years or younger, in a prospectively randomized controlled trial. PGS will be performed to assess chromosomal…
The aim of the present experiment is to test whether the normally right-lateralised response to emotional prosody is reduced in KS.
To include Dutch subjects in a Canadian study to establish the frequency of intergenerational CAG size changes for individuals with an intermediate allele (27-35 CAG) for Huntington disease. This will allow us to understand the evolution of HD…
The main objective of this prospective population based cohort study of patients with KD in the Netherlands and Flemish part of Belgium is to perform multiple tests (i.e. clinical and blood) and genomic profiling to discover possible biomarkers for…
To find out whether T4 treatment of Down syndrome newborns until the age of 2 years compared with placebo treatment results in better cognitive or motor development at the age of 10 years and 6-8 months, and whether it is safe with regard to nerve…
To develop and evaluate a screening questionnaire as an aid in identifying individuals experiencing significant psychosocial problems associated with cancer genetic counseling. The questionnaire will be multidimensional and will be developed…
This study aims to investigate whether the clinically validated population based expanded preconception carrier screening (PCS) test, developed by the Department of Genetics of the UMCG, can be implemented responsibly via the general practitioner as…
This study aims to examine the effects of different manners in which counselors communicate uncertainty and respond to counselees* uncertainty, on analogue patients* affective and cognitive outcomes. In addition, the results of this study are used…
Primary Objective: We aim to provide a clear phenotype of the immune system in patients with FOXP1 syndrome. Secondary Objectives:We aim to correlate the immunophenotype of patients with FOXP1 syndrome with frequency and type of infections reported…
We aim to develop three cognitive profiles to assess FTDr in HD patients; 1) Fit to drive, 2) No longer fit to drive, and 3) Dubious fit to drive and no longer fit to drive. The profiles will be determined with classic neuropsychological tests,…
Aim and Objectives The overall aim is to define the broad disease spectrum of cysteine altering NOTCH3 mutations, specifically the as yet unexplored milder end of this spectrum, and to determine to what extent the mutation position predicts disease…