يعرض 1 - 10 نتائج من 34 نتيجة بحث عن '"Christine Wittevrongel"', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    دورية أكاديمية
    The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

    المؤلفون: Anouck Wijgaerts, Christine Wittevrongel, Chantal Thys, Timothy Devos, Kathelijne Peerlinck, Marloes R. Tijssen, Chris Van Geet, Kathleen Freson

    المصدر: Haematologica, Vol 102, Iss 4 (2017)

    مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

    وصف الملف: electronic resource

    Relation: https://haematologica.org/article/view/8035; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

    URL الوصول: https://doaj.org/article/84b4aea7e58948eb988c07dcb39934e6

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  2. 2
    دورية أكاديمية
    Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

    المؤلفون: Benedetta Izzi, Inge Francois, Veerle Labarque, Chantal Thys, Christine Wittevrongel, Koen Devriendt, Eric Legius, Annick Van den Bruel, Marc D'Hooghe, Diether Lambrechts, Francis de Zegher, Chris Van Geet, Kathleen Freson

    المصدر: PLoS ONE, Vol 7, Iss 6, p e38579 (2012)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3367970?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/d36396e9ab81486fbc4b2d29f01b5712

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  3. 3
    Unravelling the disease mechanism for TSPYL1 deficiency

    المؤلفون: Christine Wittevrongel, Gunnar Buyse, Berten Ceulemans, Anouck Wijgaerts, Chris Van Geet, Hild Van Esch, Sophie Louwette, Michela Di Michele, Chantal Thys, Kathleen Freson, Kate Downes

    المصدر: Human molecular genetics

    مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Proteome, Nucleosome assembly, Biology, Sudden death, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Internal medicine, Exome Sequencing, Genetics, medicine, Animals, Humans, Frameshift Mutation, Molecular Biology, Zebrafish, Genetics (clinical), Exome sequencing, Neurogenesis, Infant, Newborn, Infant, Nuclear Proteins, General Medicine, Fibroblasts, medicine.disease, Hypotonia, Pedigree, Chemistry, Phenotype, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Female, Human medicine, medicine.symptom, Polyneuropathy, Sudden Infant Death

    وصف الملف: Print

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc41f1986c5fcef0a0361ebd6bb9db94
    https://doi.org/10.1093/hmg/ddaa233

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  4. 4
    Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development

    المؤلفون: Griet Laenen, Christine Wittevrongel, Raf Winand, Benedetta Izzi, Elise Vangeel, Carla Verpoorten, Yves Moreau, Katrien Jansen, Chris Van Geet, Kathleen Freson, Anne Rochtus

    المصدر: Clinical Epigenetics

    مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, Neural Tube, Meningomyelocele, BMP4, Biology, Epigenesis, Genetic, 03 medical and health sciences, Genetics, medicine, SOXF Transcription Factors, Humans, Genetic Predisposition to Disease, Epigenetics, Molecular Biology, Spina bifida, Genetics (clinical), Neural tube defects, SOX18, Regulation of gene expression, DNA methylation, SISTA, Research, Neural tube, Methylation, 030104 developmental biology, medicine.anatomical_structure, DNA demethylation, HEK293 Cells, CpG site, Gene Expression Regulation, Female, Myelomeningocele, Developmental Biology, Genome-Wide Association Study

    وصف الملف: Electronic-eCollection; application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9c68efde4cbd64059cd0919fd0da39
    http://europepmc.org/articles/PMC5064967

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  5. 5
    NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish

    المؤلفون: Chris Van Geet, Elisa Decuyper, Sophie Louwette, Gwenny Vandeweeghde, Christine Wittevrongel, Jaak Jaeken, Luc Régal, Rita Vos, Chantal Thys, Peter Leemans, Kathleen Freson

    المصدر: Human Molecular Genetics. 22:61-73

    مصطلحات موضوعية: Blood Platelets, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Biology, Filipin, chemistry.chemical_compound, Niemann-Pick C1 Protein, hemic and lymphatic diseases, Genetics, Lysosomal storage disease, medicine, Animals, Humans, Platelet, Child, Molecular Biology, Zebrafish, Genetics (clinical), Abnormal Platelet, Membrane Glycoproteins, Niemann–Pick disease, type C, Cell Death, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Membrane Proteins, nutritional and metabolic diseases, Cell Differentiation, Niemann-Pick Disease, Type C, General Medicine, Petechial rash, Zebrafish Proteins, medicine.disease, Thrombocytopenia, chemistry, Immunology, Female, lipids (amino acids, peptides, and proteins), NPC1, Carrier Proteins, Cholesterol storage

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a5d4f28ec11b8ce62cacf3e963f8e6c
    https://doi.org/10.1093/hmg/dds401

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  6. 6
    A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

    المؤلفون: Claire Lentaigne, Deborah Whitehorn, Tamam Bakchoul, Tadbir K. Bariana, John Bradley, Anne M. Kelly, Anouck Wijgaerts, Jonathan Stephens, Rémi Favier, Chantal Thys, Marc De Maeyer, Augusto Rendon, Sri V V Deevi, Kathelijne Peerlinck, F. Lucy Raymond, Michele P. Lambert, Kathleen Freson, Michael Laffan, D. J. Perry, Sylvia Richardson, Myrto Kostadima, Andrew D Mumford, Kathleen Stirrups, Christopher J. Penkett, Ernest Turro, Sol Schulman, Ilenia Simeoni, Wendy N. Erber, Willem H. Ouwehand, Keith Gomez, Mary Mathias, Paquita Nurden, Sofia Papadia, Chris Van Geet, Steve Austin, Sarah K Westbury, Daniel Greene, Sofie Ashford, Dominik Selleslag, Christine Wittevrongel, Peter William Collins, Carolyn M. Millar, Antony P. Attwood

    المساهمون: Med Microbiol, Infect Dis & Infect Prev, MUMC+: DA CDL Algemeen (9), RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, Biochemie, RS: CARIM - R1.03 - Cell biochemistry of thrombosis and haemostasis, Medical Research Council (MRC)

    المصدر: Science Translational Medicine, 8(328):328ra30. American Association for the Advancement of Science
    Turro, E, Greene, D, Wijgaerts, A, Thys, C, Lentaigne, C, Bariana, T K, Westbury, S K, Kelly, A M, Selleslag, D, Stephens, J C, Papadia, S, Simeoni, I, Penkett, C J, Ashford, S, Attwood, A, Austin, S, Bakchoul, T, Collins, P, Deevi, S V V, Favier, R, Kostadima, M, Lambert, M P, Mathias, M, Millar, C M, Peerlinck, K, Perry, D J, Schulman, S, Whitehorn, D, Wittevrongel, C, De Maeyer, M, Rendon, A, Gomez, K, Erber, W N, Mumford, A D, Nurden, P, Stirrups, K, Bradley, J R, Lucy Raymond, F, Laffan, M A, Van Geet, C, Richardson, S & Freson, K & Ouwehand, W H 2016, ' A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies ', Science Translational Medicine, vol. 8, no. 328, 328ra30 . https://doi.org/10.1126/scitranslmed.aad7666

    مصطلحات موضوعية: 0301 basic medicine, Male, Myeloid, Research & Experimental Medicine, chemistry.chemical_compound, 0302 clinical medicine, Megakaryocyte, Chlorocebus aethiops, Src family kinase, Animals, Blood Platelets, Bone and Bones, COS Cells, Cercopithecus aethiops, Female, Hematopoiesis, Hemorrhage, Humans, Mutation, Pedigree, Phenotype, Primary Myelofibrosis, Thrombocytopenia, Transfection, Zebrafish, src-Family Kinases, Medicine (all), PLATELET, 11 Medical and Health Sciences, OSTEOCLASTS, General Medicine, CONFORMATION, medicine.anatomical_structure, Medicine, Research & Experimental, 030220 oncology & carcinogenesis, Stem cell, Tyrosine kinase, Life Sciences & Biomedicine, Proto-oncogene tyrosine-protein kinase Src, GRAY PLATELET SYNDROME, UNRAVEL, IMATINIB, Article, Gray platelet syndrome, 03 medical and health sciences, MEGAKARYOCYTES, OSTEOPETROSIS, medicine, Science & Technology, COMPLEX, business.industry, ZEBRAFISH, BRIDGE-BPD Consortium, Tyrosine phosphorylation, Cell Biology, 06 Biological Sciences, medicine.disease, PODOSOMES, MICE, 030104 developmental biology, chemistry, DEFECT, Immunology, CELLS, Cancer research, RNA, HUMAN PHENOTYPE ONTOLOGY, business, MATRIX

    وصف الملف: Print-Electronic; application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3abf3e713632f2d4f4b79dd740d7ce90
    https://cris.maastrichtuniversity.nl/en/publications/798e4ad0-d6bf-4108-acbd-b347381a5789

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  7. 7
    Platelet studies in autism spectrum disorder patients and first-degree relatives

    المؤلفون: Chantal Thys, Nora Bijl, Kathleen Freson, Chris Van Geet, Christine Wittevrongel, Hilde Peeters, Koenraad Devriendt, Wouter De la Marche

    المصدر: Molecular Autism

    مصطلحات موضوعية: Serotonin, Platelet count, medicine.medical_specialty, Autism, 5-HT, Platelet release, Bioinformatics, behavioral disciplines and activities, Hyperserotonemia, Developmental Neuroscience, Internal medicine, mental disorders, Medicine, Platelet aggregation, Platelet, Platelet activation, First-degree relatives, Molecular Biology, Platelet functioning, business.industry, medicine.disease, Psychiatry and Mental health, Endocrinology, Epinephrine, Autism spectrum disorder, Commentary, Dense granule, business, Developmental Biology, medicine.drug

    وصف الملف: Electronic-eCollection; application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc4c82cfcfacfd6ed57faecfdc1b4dc
    https://doi.org/10.1186/s13229-015-0051-y

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  8. 8
    Methylome analysis for spina bifida shows SOX18 hypomethylation as risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development

    المؤلفون: Benedetta Izzi, Chris Van Geet, Raf Winand, Griet Laenen, Christine Wittevrongel, Kathleen Freson, Yves Moreau, Anne Rochtus, Carla Verpoorten, Katrien Jansen

    المصدر: European Journal of Paediatric Neurology. 21:e45-e46

    مصطلحات موضوعية: business.industry, Spina bifida, Neural tube, General Medicine, Risk factor (computing), Bioinformatics, medicine.disease, Affect (psychology), medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, DNA methylation, Medicine, Neurology (clinical), business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e1e6ef63965394626df1a039554eeb3
    https://doi.org/10.1016/j.ejpn.2017.04.877

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  9. 9
    GNAS Defects Identified by Stimulatory G Protein α-Subunit Signalling Studies in Platelets

    المؤلفون: Roger Bouillon, Benedetta Izzi, Nathalie Godefroid, Monique Van Helvoirt, Chantal Thys, Francis de Zegher, Chris Van Geet, Veerle Labarque, Marie Bex, Jaak Jaeken, Kathleen Freson, Christine Wittevrongel, Willem Proesmans

    المصدر: The Journal of Clinical Endocrinology & Metabolism. 93:4851-4859

    مصطلحات موضوعية: Adult, Blood Platelets, Male, medicine.medical_specialty, Adolescent, Platelet Aggregation, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Immunoblotting, Clinical Biochemistry, Syntaxin 16, Biology, Biochemistry, Genomic Imprinting, Young Adult, Exon, Endocrinology, Internal medicine, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, medicine, GNAS complex locus, Humans, Sulfites, Epigenetics, Child, Pseudohypoparathyroidism, G alpha subunit, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), DNA, DNA Methylation, medicine.disease, Phenotype, Blotting, Southern, Child, Preschool, Multigene Family, biology.protein, Female, Pseudopseudohypoparathyroidism, Genomic imprinting, Gene Deletion, Signal Transduction

    وصف الملف: Print-Electronic

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee6e335f8336c217227b5652ba002e7c
    https://doi.org/10.1210/jc.2008-0883

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  10. 10
    Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery

    المؤلفون: Christine Wittevrongel, Nathalie Goemans, Veerle Labarque, Marc Hoylaerts, Rita Vos, Chris Van Geet, Chantal Thys, Kathleen Freson

    المصدر: Human Molecular Genetics. 17:357-366

    مصطلحات موضوعية: Blood Platelets, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Gs alpha subunit, Cytoskeleton organization, Duchenne muscular dystrophy, Blood Loss, Surgical, In Vitro Techniques, Dystrophin, Extracellular matrix, Von Willebrand factor, Laminin, Internal medicine, GTP-Binding Protein alpha Subunits, Gs, Genetics, medicine, Humans, Platelet, Child, Molecular Biology, Cytoskeleton, Genetics (clinical), biology, General Medicine, Platelet Activation, medicine.disease, Muscular Dystrophy, Duchenne, Spinal Fusion, Endocrinology, Case-Control Studies, Mutation, biology.protein, Collagen, Signal Transduction

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1091c5b84531e98de52d17c5e3fde29b
    https://doi.org/10.1093/hmg/ddm312

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