Publications by authors named "M T Weerts"
Article Synopsis
- Integrin alpha V is crucial for cell adhesion and signaling during development, and mutations in its gene (ITGAV) can lead to serious health issues.
- In three families, biallelic variants were found that caused either dysfunctional protein production or the integrin being misplaced, resulting in severe developmental problems like eye and brain abnormalities, inflammatory bowel disease, and immune issues.
- Studies in patient cells and zebrafish models confirmed these mutations resulted in impaired immune signaling and developmental defects, linking the ITGAV variants to a newly identified human disease.
Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies.
Methods: We performed a retrospective analysis of the ES results of 629 fetuses with isolated or multiple anomalies referred in 2019-2022. Variants in a gene panel consisting of approximately 3400 genes associated with multiple congenital anomalies and/or intellectual disability were analyzed.
Objective: Communicating risk information and offering lifestyle advice are important goals in cardiac rehabilitation. However, the most effective way and the most effective source to communicate this information are not yet known. Therefore, we examined the effect of source (cardiologist, physiotherapist) and framing (gain, loss) of brief lifestyle advice on patients' intention-to-change-lifestyle.
View Article and Find Full Text PDFCraniosynostosis may present in isolation, 'non-syndromic', or with additional congenital anomalies/neurodevelopmental disorders, 'syndromic'. Clinical focus shifted from confirming classical syndromic cases to offering genetic testing to all craniosynostosis patients. This retrospective study assesses diagnostic yield of molecular testing by investigating prevalences of chromosomal and monogenic (likely) pathogenic variants in an 11-year cohort of 1020 craniosynostosis patients.
View Article and Find Full Text PDFArticle Synopsis
- * A case study of a patient and his mildly affected mother highlights a new family example of this microduplication, revealing significant congenital anomalies and growth restrictions in the patient, while displaying less impact on the mother.
- * The research identifies the smallest documented duplication at this genetic locus and emphasizes the variability in how this condition affects different individuals within the same family.