Search Results - "van Der Vries, Gerben"
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Gene expression profiling of epithelium-associated FcRL4+ B cells in primary Sjögren's syndrome reveals a pathogenic signature
Published in Journal of autoimmunity (01-05-2020)“…In primary Sjögren's syndrome (pSS), FcRL4+ B cells are present in inflamed salivary gland tissue, within or in close proximity to ductal epithelium. FcRL4 is…”
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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
Published in Brain (London, England : 1878) (01-11-2017)“…The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative…”
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Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice
Published in Scientific reports (10-10-2019)“…During fasting, mitochondrial fatty-acid β-oxidation (mFAO) is essential for the generation of glucose by the liver. Children with a loss-of-function…”
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Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics
Published in European journal of human genetics : EJHG (01-02-2012)“…The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy…”
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A chronic obstructive pulmonary disease related signature in squamous cell lung cancer
Published in Lung cancer (Amsterdam, Netherlands) (01-05-2011)“…Abstract The epidemiological relationship between squamous cell lung cancer (SCC) and chronic obstructive pulmonary disease (COPD), both smoking-related…”
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Running‐wheel activity delays mitochondrial respiratory flux decline in aging mouse muscle via a post‐transcriptional mechanism
Published in Aging cell (01-02-2018)“…Summary Loss of mitochondrial respiratory flux is a hallmark of skeletal muscle aging, contributing to a progressive decline of muscle strength. Endurance…”
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Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care-An Explorative Pilot Study
Published in Journal of personalized medicine (21-12-2020)“…Pharmacogenomics (PGx) can provide optimized treatment to individual patients while potentially reducing healthcare costs. However, widespread implementation…”
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An interconnected data infrastructure to support large-scale rare disease research
Published in Gigascience (02-01-2024)“…Abstract The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on…”
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Genomic aberrations in squamous cell lung carcinoma related to lymph node or distant metastasis
Published in Lung cancer (Amsterdam, Netherlands) (01-12-2009)“…Abstract About 50% of patients presenting with resectable lung cancer develop distant metastases within 5 years. Genomic markers predicting metastatic…”
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Practical guidelines for interpreting copy number gains detected by high-resolution array CGH in routine diagnostics
Published in European journal of human genetics : EJHG (21-09-2011)“…The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy…”
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