A5088656119- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Carcinogens and Genotoxicity Assessment
- Congenital heart defects research
- Sperm and Testicular Function
- Genomics and Chromatin Dynamics
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Sexual Differentiation and Disorders
- Congenital Ear and Nasal Anomalies
- Renal and related cancers
- Congenital limb and hand anomalies
- CRISPR and Genetic Engineering
- Renal cell carcinoma treatment
- Fetal and Pediatric Neurological Disorders
- Cancer-related Molecular Pathways
- Reproductive Biology and Fertility
- Genetic Neurodegenerative Diseases
- Immunodeficiency and Autoimmune Disorders
Radboud University Nijmegen
2015-2024
Radboud University Medical Center
2014-2024
Radboud Institute for Molecular Life Sciences
2019-2021
University Medical Center
2020
Ludwig-Maximilians-Universität München
2016
RWTH Aachen University
2015
In-Q-Tel
2007
KU Leuven
2003
Robert Bosch (Germany)
1998
University of Groningen
1998
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as first-tier test offered to all pregnant women. This started April 1, 2017 the TRIDENT-2 study, licensed by Dutch Ministry of Health. In first year, NIPT was performed in 73,239 pregnancies (42% pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. number trisomies 21 (239, 0.33%), 18 (49, 0.07%), 13 (55, 0.08%) found this is comparable earlier studies,...
The ICF syndrome (i̲mmunodeficiency, c̲entromeric region instability, f̲acial anomalies) is a unique DNA methylation deficiency disease diagnosed by an extraordinary collection of chromosomal anomalies specifically in the vicinity centromeres chromosomes 1 and 16 (Chr1 Chr16) mitogen-stimulated lymphocytes. These aberrations include decondensation centromere-adjacent (qh) heterochromatin, multiradial with up to 12 arms, whole-arm deletions. We demonstrate that...
To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise degree clinical suspicion for diagnosis A-T, assess a genotype-phenotype relationship mutations in ATM gene.Retrospective analysis characteristics course disease 13 A-T 9 families 6 unrelated adults mutation gene measurements protein expression kinase activity.Patients were only correctly diagnosed adulthood. They often presented extrapyramidal symptoms childhood, whereas cerebellar...
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype–phenotype correlations, we evaluated clinical laboratory data of 51 genetically proven patients, additionally measured ATM protein expression kinase activity. Patients without activity showed classical phenotype. The presence protein, correlated slightly better immunological function....
Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults TS have a reduced life expectancy, mainly related to structural abnormalities of the heart aorta, an increased risk atherosclerosis.Our objective was investigate yield initial standardized multidisciplinary screening in adult patients.This observational study at care unit for women TS.Participants were (n = 150). Mean age 31.0 ± 10.4 yr, 47% karyotype 45,X.All consulted by...
<b>Background:</b> Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains be elucidated. <b>Objective:</b> To screen submicroscopic aberrations using multiplex ligation dependent probe amplification (MLPA). <b>Methods:</b> 210 individuals with unexplained were studied. A new set of probes, the SALSA P036 telomere test kit, was used....
To select human melanoma cells that are highly tumorigenic and metastatic in nude mice we have implanted fragments of a fresh metastasis subcutaneously (s.c.) into mouse. After 3 passages mice, part the xenograft was cultured new cell line, MV3, established. intravenous (i.v.) inoculation 2 x 10(6) MV3 cells, 95% (n = 20) developed lung colonies within 6 weeks. S.c. resulted tumor take, while 90% showed spontaneous metastases lungs 7 Histological immunohistological features original patient...
Abstract Using comparative genomic hybridization (CGH), we have identified and mapped regions of DNA amplification in primary metastatic osteosarcomas. Samples were obtained from four patients ten independent xenografts. Sixty‐four percent the tumors showed increased DNA‐sequence copy numbers, affecting 23 different chromosomal sites. Most these not previously associated with development and/or progression tumors. Amplicons originating 1q21–q23, 6p, 8q23‐qter, 17p11‐p12 observed most...
Abstract Comparative genomic hybridization (CGH) was recently developed as a tool to survey entire genomes for variations in DNA sequence copy numbers. We have applied this technique detect and map amplified regions 54 soft tissue sarcomas. Aberrations were detected by visual analysis of hybridizations or contrast‐enhanced digital images, followed quantitative ratio imaging the aberrant chromosomes. Several tumors showed increased number at 12q14, expected. However, CGH amplification 12q14...
PRADER—WILLI syndrome represents the most common form of genetic obesity and is associated with mental retardation, short stature, sexual infantilism, hypotonia1 2 3 4 5 6 (Table 1). In about 60 percent affected persons a microscopically visible interstitial deletion in chromosome 15 (band ql2) observed,2 , 7 8 9 10 up to 75 deletions can be found at molecular level.11 122 13 14 DNA studies polymorphic markers have indicated that Prader-Willi aberrant always paternal origin,11 12 suggesting...
Abstract The deletion 9p syndrome is caused by a constitutional monosomy of part the short arm chromosome 9. It clinically characterized dysmorphic facial features (trigonocephaly, midface hypoplasia, and long philtrum), hypotonia mental retardation. Deletion known to be heterogeneous exhibits variable sizes. critical region for consensus phenotype has been reported located within ∼4–6 Mb interval on 9p22. In present study, breakpoints were determined in 13 Dutch patients applying...
<h3>Background:</h3> Patients with a microscopically visible deletion of the distal part long arm chromosome 1 have recognisable phenotype, including mental retardation, microcephaly, growth distinct facial appearance and various midline defects corpus callosum abnormalities, cardiac, gastro-oesophageal urogenital defects, as well central nervous system anomalies. submicroscopic, subtelomeric 1qter similar suggesting that main phenotype these patients is caused by haploinsufficiency genes in...