A5066334614- Cardiomyopathy and Myosin Studies
- Aortic Disease and Treatment Approaches
- Cardiovascular Effects of Exercise
- Cardiac Valve Diseases and Treatments
- Aortic aneurysm repair treatments
- Congenital Heart Disease Studies
- Bladder and Urothelial Cancer Treatments
- Nanoplatforms for cancer theranostics
- Muscle Physiology and Disorders
- Connective tissue disorders research
- Photodynamic Therapy Research Studies
- Genetic factors in colorectal cancer
- Viral Infections and Immunology Research
- Colorectal Cancer Screening and Detection
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Organ Transplantation Techniques and Outcomes
- Urinary Bladder and Prostate Research
- Cardiac Ischemia and Reperfusion
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Ocular Infections and Treatments
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Aortic Thrombus and Embolism
- Genomic variations and chromosomal abnormalities
University Medical Center Utrecht
2010-2023
Utrecht University
2013-2023
Gelre Hospitals
2020
University Medical Center Groningen
2014
Amsterdam UMC Location University of Amsterdam
2014
University of Groningen
2014
Netherlands Heart Institute
2014
University of Amsterdam
2014
Radboud University Nijmegen
1992-1997
The Netherlands Cancer Institute
1993-1996
Germ-line mutations in DNA mismatch-repair genes (MSH2, MLH1, PMS1, PMS2, and MSH6 ) cause susceptibility to hereditary nonpolyposis colorectal cancer. We assessed the prevalence of MSH2 MLH1 families suspected having cancer evaluated whether clinical findings can predict outcome genetic testing.
The pathogenic phospholamban R14del mutation causes dilated and arrhythmogenic right ventricular cardiomyopathies is associated with an increased risk of malignant arrhythmias end-stage heart failure. We performed a multicentre study to evaluate mortality, cardiac disease outcome, factors for in cohort carriers.Using the family tree mortality ratio method 403 carriers, we found standardized 1.7 (95% confidence interval, 1.4-2.0) significant excess starting from age 25 years. Cardiological...
Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in phospholamban (PLN) gene can be identified 10-15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The burden p.Arg14del was illustrated by high rate appropriate ICD discharges and a positive family history for sudden cardiac death.Our goal to evaluate geographical distribution origin this specific Netherlands get an estimation prevalence population cohort. Therefore, investigated postal codes...
Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed CGG repeats. As reproductive fitness fra(X) patients severely compromised, a high mutation rate has been proposed to explain prevalence. However, we have unable show any new for 84 probands referred us date. We here same gene in five with ancestors married 1747. The lack mutations implies that there must be many more carriers population than previously realised. it...
Background Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce diagnosis in >50% of paediatric patients. Identifying cause crucial because this knowledge can affect management options, cardiac surveillance relatives and reproductive decision-making. In study, we sought identify the underlying defect patient born consanguineous parents with rapidly progressive DCM that led death early infancy. Methods results Exome...
Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome that characterised by the occurrence of tumours in parathyroid glands, pancreas, pituitary gland and adrenal glands neuroendocrine carcinoid tumours, often at a young age. The penetrance MEN1 among gene carriers reported to be high; 82–99% age 50. We present patient with history adenomas also showing signs acromegaly. He turned out carrier germ-line mutation intron 3 (IVS3-6C > G). This was found nine his family members....
The influence of type photosensitizer, drug and light dose, time interval between photosensitizer illumination on the extent photodynamic therapy (PDT)-induced bladder damage recovery was investigated using a mouse model. three photosensitizers studied were Photofrin, meso-tetrahydroxyphenylchlorin (m-THPC) bacteriochlorin (BCA). Functional quantitatively assessed from increases in urination frequency index (FI) at 1-35 weeks after histological qualitatively 1 day, 1, 2 12 weeks....
The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in DMD gene a cohort previously undiagnosed patients who had been referred period 1985-1995.All requests DNA analysis probands with suspected BMD were re-evaluated. If was compatible BMD, no deletions or duplications detected, samples screened small mutations.In 79 185 referrals, mutation found. Analysis could performed on 31 samples. Seven different...
Abstract Introduction The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic the ClinVar database. We aimed to delineate its associated phenotype evaluate a potential founder effect. Methods retrospectively collected clinical genetic data of 22 probands 74 family members from an international cohort. Results In total, 53 individuals carried variant, whom 38 (72%) were diagnosed with hypertrophic cardiomyopathy (HCM)....
Abstract Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to early death. The CLN3 locus which involved in disease had been localized chromosome 16p11.2. Linkage disequilibrium has observed between polymorphic microsatellite markers D16S288, D16S299, D16S298, making carrier detection prenatal diagnosis by haplotype analysis possible. For purpose...
Abstract Background Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed investigate the pathogenic effect TGFBR1 mutation relation TAAD. Methods Co‐segregation analysis was performed followed by functional investigations, including myogenic transdifferentiation. Results The c.1043G>A found index patient, deceased brother, five presymptomatic family members. Evidence for pathogenicity predicted damaging this co‐segregation family....
No AccessJournal of Urology1 Dec 1993Bladder Damage in Mice after Single and Repeated intravesical Instillations Mitomycin C or Doxorubicin J.G. Post, J.A.M. te Poele, Y. Oussoren, F.A. Stewart PostJ.G. Post More articles by this author , PoeleJ.A.M. Poele OussorenY. Oussoren StewartF.A. View All Author Informationhttps://doi.org/10.1016/S0022-5347(17)35947-5AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Functional...