A5015888881- Genetic factors in colorectal cancer
- Ovarian function and disorders
- Colorectal Cancer Screening and Detection
- Cancer Genomics and Diagnostics
- Assisted Reproductive Technology and Twin Pregnancy
- Multiple and Secondary Primary Cancers
- Reproductive Biology and Fertility
- Reproductive Health and Technologies
- Genetics and Neurodevelopmental Disorders
- Gestational Diabetes Research and Management
- Lipid metabolism and disorders
- Ovarian cancer diagnosis and treatment
- Nursing Roles and Practices
- Colorectal and Anal Carcinomas
- Gynecological conditions and treatments
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Craniofacial Disorders and Treatments
- DNA Repair Mechanisms
- Urinary and Genital Oncology Studies
- Hospital Admissions and Outcomes
- Surgical Simulation and Training
- Reproductive System and Pregnancy
- Bone and Dental Protein Studies
- Viral Infections and Immunology Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
Erasmus MC Cancer Institute
2021-2025
ERN GUARD-Heart
2025
ERN CRANIO
2025
University Medical Center Utrecht
2006-2024
Erasmus MC
2011-2024
The European Academy of Gynaecological Surgery
2018
Heidelberg University
2014
University Hospital Heidelberg
2014
Amsterdam UMC Location Vrije Universiteit Amsterdam
2014
Erasmus University Rotterdam
2011
Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes, resulting microsatellite-unstable tumours. Approximately 35% of suspected LS (sLS) patients test negative for MMR gene mutations, hampering conclusive diagnosis. The aim this study was to investigate somatic aberrations colorectal and endometrial cancers sLS mutations. Suspected cases were selected from a retrospective Clinical Genetics Department diagnostic cohort prospective multicentre population-based on...
Two lysine acyltransferases govern histone H3 propionylation at 23 in normal and pathological conditions.
Polycystic ovary syndrome (PCOS) is associated with metabolic abnormalities. It debated whether all women PCOS should be screened for abnormalities as these may vary phenotype, age and ethnicity. The aims of this study were to assess the prevalence in Dutch anovulatory define criteria screening.Anovulatory patients, diagnosed according Rotterdam consensus criteria, underwent screening. Through stepwise multivariate analysis patient characteristics (MetS) insulin resistance (IR) evaluated...
Can we develop an adequate preconception prediction model to identify those women with polycystic ovary syndrome (PCOS) who have increased risk of developing gestational diabetes mellitus (GDM) during subsequent pregnancy? The GDM in PCOS can be adequately predicted prior conception by a model. Women are at pregnancy complications, especially GDM. has serious short-term and long-term effects on mother baby. This study is part multicentre prospective cohort study, which was conducted between...
BACKGROUNDLow plasma sex hormone-binding globulin (SHBG) concentrations during pregnancy have been associated with the risk of developing gestational diabetes mellitus (GDM). Women presenting polycystic ovary syndrome (PCOS) often exhibit low SHBG concentration and are at increased GDM. In this study, we investigate whether levels before conception predictive GDM in women PCOS.
To assess the cost-effectiveness of routine Lynch syndrome (LS) screening among colorectal cancer (CRC) patients ≤70 years age.A population-based series CRC age was routinely screened for LS. We calculated life gained (LYG) and incremental ratios (ICERs) different cutoffs comparing age-targeted with revised Bethesda guidelines.Screening 1,117 identified 23 LS patients, whom 7 were ≤50 age, 51-60, 9 61-70. Additionally, 70 carriers relatives (14, 42, 14 per category). Screening amounted to...
Polycystic ovary syndrome (PCOS) is a complex disorder with variable prevalence and clinical presentation in different populations, which may be mediated by geographical ethnic background. We performed comparison of phenotypic characteristics between 547 Chinese 427 Dutch women PCOS oligo/amenorrhoea attending University Reproductive Centers China the Netherlands. presenting diagnosis were observed to have higher incidence hyperandrogenism (HA) (P < 0.001) amenorrhoea compared women, but no...
Are fragile X mental retardation gene 1 (FMR1) CGG repeats in the normal and intermediate range (up to 55 repeats) associated with primary ovarian insufficiency (POI) a large case–control study? No association was found between of size POI compared controls. FMR1 premutation (55–200 have consistenly POI. Intermediate been considered for potential A study 375 well-phenotyped Dutch women diagnosed 3368 controls natural menopause ≥40 years age. The repeat number determined by PCR amplification...
Abstract Background: Female patients with Peutz-Jeghers syndrome (PJS) have an increased risk of breast cancer (BrCa), and surveillance is recommended. However, clinicopathological features their tumors prognosis are lacking. To facilitate more precise future guideline development, we evaluated these data. Methods: We conducted international survey for InSiGHT members to collect retrospective data on PJS diagnosed cancer. Results: received 23 responses, including three centers BrCa patients....
Is routine screening by oral glucose tolerance test (OGTT) needed for all women with polycystic ovary syndrome (PCOS)? Screening metabolism abnormalities of PCOS patients an OGTT could potentially be limited to who present a fasting concentration between 6.1 and 7.0 mmol/l only. Women are at increased risk developing diabetes. This study proposes stepwise strategy (pre)diabetes based on stratification plasma glucose. A cross-sectional 226 diagnosed anovulatory PCOS. consecutive series...
Small-bowel surveillance with polypectomy of polyps ≥15 mm prevents complications in patients Peutz-Jeghers syndrome (PJS). We aimed to compare magnetic resonance enteroclysis (MRE) and double balloon enteroscopy (DBE) for diagnostic yield these patient preference.PJS prospectively underwent MRE followed by proximal DBE within 20 weeks. Endoscopists were blinded the results. compared number detected DBE. Patients' perceptions both procedures assessed using questionnaires.Fifteen PJS (67%...
BACKGROUND: The high iatrogenic multiple pregnancy rate associated with intrauterine insemination (IUI) in hyperstimulated cycles is becoming less acceptable. Therefore we investigated data from an earlier prospective trial regard to the specific question of whether application mild hyperstimulation IUI could be alternative strategy for obtaining acceptable rates while preventing a rate, compared natural IUI. METHODS: Pregnancy outcome 310 and 334 mildly 171 couples unexplained or male...
BACKGROUND: With the occasional reports of unexpectedly poor ovarian response to controlled hyperstimulation (COH) for IVF in young normally cyclic women mind, we studied age-related COH a group who underwent standard IVF. METHODS: Ovarian was defined as number follicles ≥14 mm on day hCG administration. analysed by multiple regression analysis with woman's age and basal FSH concentration explanatory variables prospective cohort patients idiopathic mild male factor subfertility (n=85),...
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations the MSH6 MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift that clearly abrogate activity. However, missense whose functional implications unclear also frequently seen suspected-LS patients. To conclusively diagnose enroll patients appropriate surveillance programs to reduce morbidity as...
Journal Article CA repeat polymorphism from YAC JW25 at the D5S318 locus, distal to adenomatous polyposis coli (APC) Get access J. Wijnen, Wijnen Department of Human Genetics, Leiden UniversityThe Netherlands Search for other works by this author on: Oxford Academic PubMed Google Scholar C. Tops, Tops Breukel, Breukel van Leeuwen, Leeuwen A. Goverde, Goverde H. der Klift, Klift R. Fodde, Fodde * *To whom correspondence should be addressed P. Meera Khan Nucleic Acids Research, Volume 19,...