Publications by authors named "G A Vande Zande"
Objective: To study the impact of aneuploid granulosa and stromal cells on folliculogenesis of small ovarian follicles from patients with mosaic Turner syndrome (TS) using a murine xenograft model.
Design: Laboratory study.
Setting: University hospital.
Somatic structural variants (SVs) are important drivers of cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all SVs in a given sample still requires a combination of cytogenetic techniques, including karyotyping, FISH, and CNV microarrays. We hypothesize that the combination of these classical approaches could be replaced by optical genome mapping (OGM).
View Article and Find Full Text PDFArticle Synopsis
- Chromosomal aberrations, including structural variations, are significant contributors to genetic diseases, and current detection methods like karyotyping and CNV microarrays have limitations in resolution and ability to identify certain types of anomalies.
- The study assessed optical genome mapping (OGM) on ultra-high-molecular-weight DNA from 85 samples to detect known chromosomal aberrations, achieving 100% concordance with standard tests for non-centromeric breakpoints.
- The findings suggest OGM could revolutionize genetic testing by providing a high-resolution, cost-effective approach for detecting a wide range of chromosomal aberrations, paving the way for advancements in clinical cytogenetics.
Bladder urothelial cell carcinoma (UCC) incidence is about three times higher in men compared with women. There are several indications for the involvement of hormonal factors in the aetiology of UCC. Here, we provide evidence of androgen signalling in UCC progression.
View Article and Find Full Text PDFObjective: To report a case of a young girl initially diagnosed with exclusively 45,X Turner syndrome (TS), but with a cryptic mosaicism in the ovary.
Design: Case report.
Setting: Radboud University Medical Center in the Netherlands.