A5058515185- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Parvovirus B19 Infection Studies
- Carcinogens and Genotoxicity Assessment
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Congenital Anomalies and Fetal Surgery
- interferon and immune responses
- Peptidase Inhibition and Analysis
- Genomics and Rare Diseases
- Congenital limb and hand anomalies
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
- Cancer-related gene regulation
- Genomics and Chromatin Dynamics
- PARP inhibition in cancer therapy
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- CRISPR and Genetic Engineering
- Ubiquitin and proteasome pathways
Erasmus University Rotterdam
2005-2017
Erasmus MC
2013-2016
Utrecht University
2016
University Medical Center Groningen
2016
Leiden University Medical Center
2005-2006
Leiden University
2005
Wageningen University & Research
2005
Karolinska Institutet
2005
In meiotic prophase, synaptonemal complexes (SCs) closely appose homologous chromosomes (homologs) along their length. SCs are assembled from two axial elements (AEs), one each homolog, which connected by numerous transverse filaments (TFs). We disrupted the mouse gene encoding TF protein Sycp1 to analyze role of TFs in chromosome behavior and recombination. -/- mice infertile, but otherwise healthy. spermatocytes form normal AEs, align homologously, do not synapse. Most arrest pachynema,...
Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, systemic features at birth resembling the sequelae of congenital infection but in absence an infectious agent. Genetic defects resulting activation type 1 interferon (IFN) responses have been documented to cause Aicardi-Goutières syndrome, which a PTS. Ubiquitin-specific peptidase 18 (USP18) key negative regulator I IFN signaling. In this study, we identified...
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected diagnostic yield. The aim of this study was to evaluate impact SNP array and noninvasive prenatal testing (NIPT) on yield number invasive tests our center. frequency pathogenic fetal unbalanced chromosome aberrations studied 10,005 cases referred for 2009-2015. Chromosomal microarray analysis replaced karyotyping all invasively tested pregnancies since 2014 a choice between NIPT with...
We present a unique case in which non-invasive and invasive prenatal diagnoses showed abnormal, but discordant, results. A patient with abnormal test (NIPT) results, indicating 99% risk for monosomy X, was referred to our center genetic counseling confirmatory studies. Cytogenetic analysis of uncultured mesenchymal core chorionic villi (CV) revealed mosaic male karyotype consisting two cell lines: one X the other an isodicentric chromosome Y. Array trophoblast confirmed NIPT Based on CV...
Abstract Objective Isolated agenesis of the corpus callosum on fetal ultrasound has a varied prognosis. Microarray and exome sequencing (ES) might aid in prenatal counseling. Method This study includes 25 fetuses with apparently isolated complete (cACC) ultrasound. All cases were offered single nucleotide polymorphism array. Complementary ES was postnatally selected cases. Clinical physical neurodevelopmental follow‐up collected. Results Eighteen opted for array testing, which detected...
To assess phenotypic and genotypic characteristics of small-for-gestational-age (SGA) fetuses without structural anomalies at 18-24 weeks' gestation.This retrospective study included structurally normal singleton with an abdominal circumference ≤ 5th percentile on detailed ultrasound examination between 18 24 gestation. Cases were stratified according to the absence or presence other abnormal findings, such as amniotic fluid soft markers. All patients offered invasive prenatal testing rapid...
The CSTB gene encodes for cystatin B, an inhibitor of lysosomal cysteine protease (cathepsins H, L, and S).1 mutations have been associated with type 1 progressive myoclonic epilepsy, also known as Unverricht-Lundborg (ULD) disease, or Baltic myoclonus.2,3 A total 90% all disease alleles consists expansion at least 30 times unstable 12-nucleotide stretch (dodecamer 5′-CCCCGCCCCGCG-3′) in the promoter region. Homozygosity this is considered founder mutation Finnish population. Few other...
Abstract Background Hemophilia B is an X‐linked recessive disorder caused by mutations in the F9 on Xq27.1. Mainly males are affected but about 20% of female carriers have clotting factor IX activity below 0.40 IU /ml and bleeding problems. Fragile‐X syndrome ( FMR 1 ) FRAXE AFF 2 well‐known causes intellectual disability. Simultaneous deletion both results severe In females phenotype more variable. We report a 19‐year‐old with disability long‐standing history. Methods A SNP array analysis...