Search Results - "Peeters, V"
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Novel CLDN1 mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease
Published in British journal of dermatology (1951) (01-03-2018)Get full text
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2
Human whole genome sequencing in South Africa
Published in Scientific reports (12-01-2021)“…The advent and evolution of next generation sequencing has considerably impacted genomic research. Until recently, South African researchers were unable to…”
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Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics
Published in Frontiers in oncology (29-09-2021)“…Research performed in South African (SA) breast, ovarian and prostate cancer patients resulted in the development of a rapid BRCA point-of-care (POC) assay…”
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Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway
Published in International journal of molecular sciences (22-02-2017)“…Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to…”
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Paraneoplastic systemic lupus erythematosus in association with oat cell tumour of the lung
Published in Journal of the European Academy of Dermatology and Venereology (01-01-2018)Get full text
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Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing
Published in Molecular genetics and metabolism reports (01-06-2019)“…Multiple sclerosis is a disorder related to demyelination of axons. Iron is an essential cofactor in myelin synthesis. Previously, we described two children…”
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Targeted next‐generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics
Published in International journal of laboratory hematology (01-12-2017)“…Introduction Detection of mutations in patients with myeloid neoplasms (MNs) has shown great potential for diagnostic and prognostic purposes. Next‐generation…”
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Comparison and Evaluation of Osiris and Sirscan 2000 Antimicrobial Susceptibility Systems in the Clinical Microbiology Laboratory
Published in Journal of Clinical Microbiology (01-08-2003)“…Article Usage Stats Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance
Published in European journal of endocrinology (01-06-2011)“…ObjectiveIn this study, we hypothesized that mutations in the resistin encoding gene, RETN, may cause a monogenic form of obesity.Design/methodsWe screened the…”
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Rothia dentocariosa, endocarditis and mycotic aneurysms: case report and review of the literature
Published in Clinical microbiology and infection (01-03-2003)“…Rothia dentocariosa is a rare cause of endocarditis. It occurs most frequently in patients with prior heart conditions. Although the clinical course is…”
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Determination of the biological diatom index (IBD NF T 90-354): results of an intercomparison exercise
Published in Journal of applied phycology (01-02-2002)“…The Biological Diatom Index (IBD) has been used in France since 1994 for routine assessment of water quality. To accredit this approach as a standard sampling…”
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Streptococcus pneumoniae-infected aneurysm extending from a persistent lobar pneumonia: Case report and review of the literature
Published in European journal of clinical microbiology & infectious diseases (01-05-2002)“…Presented here is the case of a 63-year-old patient with a Streptococcus pneumoniae-infected aneurysm extending from a persistent lobar pneumonia of the left…”
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Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases
Published in Metabolic brain disease (01-08-2021)“…In Part I of this Review we evaluated the scientific evidence for a Metabolic Model of multiple sclerosis (MS). Part II outlines the implementation of an…”
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Alpha-1-Fetoprotein (AFP): international proficiency study with different test systems
Published in Clinical laboratory (Heidelberg) (2011)“…The present proficiency study aimed to elucidate the comparability and reliability of test systems for the determination of AFP concentrations. 25 laboratories…”
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Association of SIRT1 gene variation with visceral obesity
Published in Human genetics (01-11-2008)“…The sirtuin SIRT1 is an important regulator of energy metabolism through its impact on glucose and lipid metabolism and therefore we tested the hypothesis that…”
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Correction to: Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases
Published in Metabolic brain disease (01-08-2021)“…A Correction to this paper has been published: https://doi.org/10.1007/s11011-021-00722-7…”
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Genomic medicine and risk prediction across the disease spectrum
Published in Critical reviews in clinical laboratory sciences (04-05-2015)“…Genomic medicine is based on the knowledge that virtually every medical condition, disease susceptibility or response to treatment is caused, regulated or…”
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Significance of cut-off ratios with high-risk HPV hybrid capture 2
Published in Journal of clinical virology (2006)Get full text
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Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient
Published in Metabolic brain disease (01-02-2016)“…In contrast to malaria, multiple sclerosis (MS) is infrequently found in Black Africans. We describe a 29 year old Nigerian female who developed an MS-like…”
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False-positive result with BinaxNOW Legionella Antigen immunochromatographic (ICT) assay: response to Helbig et al. (2001)
Published in Journal of medical microbiology (01-02-2004)Get full text
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