Search Results - "Peter J. van der Spek"
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The preconception Mediterranean dietary pattern in couples undergoing in vitro fertilization/intracytoplasmic sperm injection treatment increases the chance of pregnancy
Published in Fertility and sterility (01-11-2010)“…Objective To investigate associations between preconception dietary patterns and IVF/intracytoplasmic sperm injection (ICSI) outcomes validated by biomarkers…”
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2
Identification of candidate genes for developmental colour agnosia in a single unique family
Published in PloS one (06-09-2023)“…Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and…”
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3
Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
Published in American journal of human genetics (15-07-2011)“…Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation…”
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Glut1/SLC2A1 is crucial for the development of the blood-brain barrier in vivo
Published in Annals of neurology (01-12-2010)“…Objective The overall permeability of the blood‐brain barrier (BBB) is regulated by specialized cerebral endothelial cells and their junctional complexes,…”
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Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase
Published in The journal of clinical endocrinology and metabolism (01-05-2019)“…Abstract Context Thyroid hormone is important for normal brain development. The type 2 deiodinase (D2) controls thyroid hormone action in the brain by…”
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Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background
Published in PloS one (06-12-2013)“…In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The…”
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Metabolomic Signatures for the Effects of Weight Loss Interventions on Severe Obesity in Children and Adolescents
Published in Metabolites (30-12-2021)“…Childhood obesity has increased worldwide, and many clinical and public interventions have attempted to reduce morbidity. We aimed to determine the metabolomic…”
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Gene expression and functional annotation of the human and mouse choroid plexus epithelium
Published in PloS one (31-12-2013)“…The choroid plexus epithelium (CPE) is a lobed neuro-epithelial structure that forms the outer blood-brain barrier. The CPE protrudes into the brain ventricles…”
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Immunologic mechanisms associated with STAT6 gain-of-function variant identified in early-onset allergies
Published in Journal of allergy and clinical immunology (01-02-2024)Get full text
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Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN)
Published in Pharmaceuticals (Basel, Switzerland) (02-04-2021)“…Histological diagnosis of differentiated vulvar intraepithelial neoplasia (dVIN), the precursor of human papillomavirus (HPV)-independent vulvar squamous cell…”
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Galaxy mothur Toolset (GmT): a user-friendly application for 16S rRNA gene sequencing analysis using mothur
Published in Gigascience (01-02-2019)“…Abstract Background The determination of microbial communities using the mothur tool suite (https://www.mothur.org) is well established. However, mothur…”
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A new strategy to identify and annotate human RPE-specific gene expression
Published in PloS one (07-05-2010)“…To identify and functionally annotate cell type-specific gene expression in the human retinal pigment epithelium (RPE), a key tissue involved in age-related…”
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13
First trimester physiological development of the fetal foot position using three‐dimensional ultrasound in virtual reality
Published in The journal of obstetrics and gynaecology research (01-02-2019)“…Aim In anatomic studies of the embryo, it has been established that during the development of the lower limb, several changes in foot position can be observed…”
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Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA–minus RNA sequencing data
Published in Gigascience (09-12-2021)“…Abstract Background Fusion genes are typically identified by RNA sequencing (RNA-seq) without elucidating the causal genomic breakpoints. However,…”
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Gene expression and functional annotation of the human ciliary body epithelia
Published in PloS one (18-09-2012)“…The ciliary body (CB) of the human eye consists of the non-pigmented (NPE) and pigmented (PE) neuro-epithelia. We investigated the gene expression of NPE and…”
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Plasticity mechanisms of genetically distinct Purkinje cells
Published in BioEssays (01-06-2024)“…Despite its uniform appearance, the cerebellar cortex is highly heterogeneous in terms of structure, genetics and physiology. Purkinje cells (PCs), the…”
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On the origin of proteins in human drusen: The meet, greet and stick hypothesis
Published in Progress in retinal and eye research (01-05-2019)“…Retinal drusen formation is not only a clinical hallmark for the development of age-related macular degeneration (AMD) but also for other disorders, such as…”
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Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade
Published in PloS one (09-08-2011)“…Medial degeneration is a key feature of aneurysm disease and aortic dissection. In a murine aneurysm model we investigated the structural and functional…”
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CRISPRs in the human genome are differentially expressed between malignant and normal adjacent to tumor tissue
Published in Communications biology (08-04-2022)“…Clustered Regularly Interspaced Short Palindromic Repeats (CRISPRs) have been identified in bacteria, archaea and mitochondria of plants, but not in…”
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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Published in Nature genetics (01-09-2010)“…Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high levels of fetal hemoglobin (HbF) in adults. Several contributory factors,…”
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