المؤلفون: Holub, P, Kohlmayer, F, Prasser, F, Mayrhofer, MT, Schlunder, I, Martin, GM, Casati, S, Koumakis, L, Wutte, A, Kozera, L, Strapagiel, D, Anton, G, Zanetti, G, Sezerman, OU, Mendy, M, Valik, D, Lavitrano, M, Dagher, G, Zatloukal, K, van Ommen, GB, Litton, JE

المصدر: Biopreservation and biobanking. 16(2):97-105

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139315479

المؤلفون: Jayne Y. Hehir-Kwa, van Ommen Gb, Dijkstra Lj, Guryev, Wigard P. Kloosterman, Andre G. Uitterlinden, Eric-Wubbo Lameijer, Patrick Deelen, de Bakker P, Kai Ye, Thung Dt, René Wardenaar, Alexander Schoenhuth, van Dijk F, Bradley P. Coe, Laurent C. Francioli, Jasmijn A. Baaijens, Ivo Renkens, de Ligt J, Eline Slagboom P, Evan E. Eichler, Fereydoun Hormozdiari, Cisca Wijmenga, Dorret I. Boomsma, Abdel Abdellaoui, Koval, Morris A. Swertz, Tobias Marschall

مصطلحات موضوعية: Genetics, 0303 health sciences, Linkage disequilibrium, education.field_of_study, Population, Computational biology, Biology, Genome, Structural variation, 03 medical and health sciences, 0302 clinical medicine, Human genome, Mobile genetic elements, education, 030217 neurology & neurosurgery, Imputation (genetics), 030304 developmental biology, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aea1fcf3db83a392d78a14fdcd956629
https://doi.org/10.1101/036897

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المؤلفون: van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. G.J.B.van_Ommen@lumc.nl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jun; Vol. 28 (6), pp. 693.

نوع المنشور: Editorial

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19/*genetics , Human Genetics/*methods, Biological Specimen Banks/organization & administration ; COVID-19/pathology ; Europe ; Genome-Wide Association Study/methods ; Humans ; Information Dissemination/methods

المؤلفون: Fest J; Department of Surgery, Erasmus Medical Center, CA Rotterdam, Netherlands.; Department of Epidemiology, Erasmus Medical Center, CA Rotterdam, Netherlands., Vijfhuizen LS; Department of Human Genetics, Leiden University Medical Center, RC Leiden, Netherlands., Goeman JJ; Department of Biomedical Data Sciences, Leiden University Medical Center, RC Leiden, Netherlands., Veth O; Department of Human Genetics, Leiden University Medical Center, RC Leiden, Netherlands., Joensuu A; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Perola M; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Männistö S; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland., Ness-Jensen E; HUNT Research Center, Department of Public Health and Nursing, Norwegian University of Science and Technology, Levanger, Norway., Hveem K; HUNT Research Center, Department of Public Health and Nursing, Norwegian University of Science and Technology, Levanger, Norway., Haller T; Institute of Genomics, University of Tartu, Tartu, Estonia., Tonisson N; Institute of Genomics, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Mikkel K; Institute of Genomics, University of Tartu, Tartu, Estonia., Metspalu A; Institute of Genomics, University of Tartu, Tartu, Estonia., van Duijn CM; Department of Epidemiology, Erasmus Medical Center, CA Rotterdam, Netherlands., Ikram A; Department of Epidemiology, Erasmus Medical Center, CA Rotterdam, Netherlands., Stricker BH; Department of Epidemiology, Erasmus Medical Center, CA Rotterdam, Netherlands., Ruiter R; Department of Epidemiology, Erasmus Medical Center, CA Rotterdam, Netherlands., van Eijck CHJ; Department of Surgery, Erasmus Medical Center, CA Rotterdam, Netherlands., van Ommen GB; Department of Human Genetics, Leiden University Medical Center, RC Leiden, Netherlands., ʼt Hoen PAC; Department of Human Genetics, Leiden University Medical Center, RC Leiden, Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, GA Nijmegen, Netherlands.

المصدر: Endocrinology [Endocrinology] 2019 Jul 01; Vol. 160 (7), pp. 1731-1742.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375040 Publication Model: Print Cited Medium: Internet ISSN: 1945-7170 (Electronic) Linking ISSN: 00137227 NLM ISO Abbreviation: Endocrinology Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers, Tumor/*blood , Glutamine/*blood , Histidine/*blood , Pancreatic Neoplasms/*diagnosis, Aged ; Biological Specimen Banks ; Case-Control Studies ; Early Diagnosis ; Europe ; Female ; Humans ; Magnetic Resonance Spectroscopy ; Male ; Metabolomics ; Middle Aged ; Pancreatic Neoplasms/blood

المؤلفون: Hämäläinen I; 1 Institute for Molecular Medicine, Finland (FIMM), and Diabetes and Obesity Research Program, University of Helsinki, Helsinki, Finland.; 2 Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland., Törnwall O; 3 Biobanking and BioMolecular Resources Research Infrastructure-European Research Infrastructure Consortium (BBMRI-ERIC), Graz, Austria., Simell B; 1 Institute for Molecular Medicine, Finland (FIMM), and Diabetes and Obesity Research Program, University of Helsinki, Helsinki, Finland., Zatloukal K; 4 Institute of Pathology, Medical University of Graz, Graz, Austria., Perola M; 1 Institute for Molecular Medicine, Finland (FIMM), and Diabetes and Obesity Research Program, University of Helsinki, Helsinki, Finland.; 2 Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland., van Ommen GB; 5 Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

المصدر: Biopreservation and biobanking [Biopreserv Biobank] 2019; Vol. 17 (1), pp. 46-51. Date of Electronic Publication: 2018 Nov 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Mary Ann Liebert Country of Publication: United States NLM ID: 101507284 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1947-5543 (Electronic) Linking ISSN: 19475543 NLM ISO Abbreviation: Biopreserv Biobank Subsets: MEDLINE

مواضيع طبية MeSH: Biological Specimen Banks/*organization & administration , Biomedical Research/*organization & administration , Public-Private Sector Partnerships/*organization & administration, Databases, Factual ; Europe ; Health Resources ; Humans ; Information Dissemination/methods ; Organizations ; Precision Medicine/methods ; Reproducibility of Results

المؤلفون: Schut MH; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Patassini S; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand., Kim EH; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand., Bullock J; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand., Waldvogel HJ; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand., Faull RLM; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand., Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands., van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

المصدر: PloS one [PLoS One] 2017 Jun 01; Vol. 12 (6), pp. e0178556. Date of Electronic Publication: 2017 Jun 01 (Print Publication: 2017).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Brain/*metabolism , Huntingtin Protein/*metabolism , Huntington Disease/*pathology, 3' Untranslated Regions ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Brain/pathology ; Case-Control Studies ; Cell Line ; Female ; HEK293 Cells ; Humans ; Huntington Disease/metabolism ; Male ; Middle Aged ; Open Reading Frames ; Postmortem Changes ; Sequence Homology, Amino Acid

المؤلفون: Hensman Moss DJ; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK., Flower MD; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK., Lo KK; University College London Genetics Institute, University College London, London, WC1E 6BT, UK., Miller JR; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK., van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands., 't Hoen PA; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands., Stone TC; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK., Guinee A; Faculty of Education, University of Cambridge, CB2 8PQ, Cambridge UK., Langbehn DR; Departments of Psychiatry and Biostatistics, University of Iowa, IA 52242, USA., Jones L; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK., Plagnol V; University College London Genetics Institute, University College London, London, WC1E 6BT, UK., van Roon-Mom WM; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands., Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK., Tabrizi SJ; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK.

المصدر: Scientific reports [Sci Rep] 2017 Mar 21; Vol. 7, pp. 44849. Date of Electronic Publication: 2017 Mar 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation* , Transcriptome*, Alzheimer Disease/*etiology , Brain/*metabolism , Huntington Disease/*etiology , Immunity/*genetics, Adult ; Aged ; Alzheimer Disease/blood ; Alzheimer Disease/diagnosis ; Alzheimer Disease/metabolism ; Biomarkers ; Case-Control Studies ; Female ; Gene Expression Profiling ; Gene Regulatory Networks ; High-Throughput Nucleotide Sequencing ; Humans ; Huntington Disease/blood ; Huntington Disease/diagnosis ; Huntington Disease/metabolism ; Male ; Middle Aged ; Myeloid Cells/immunology ; Myeloid Cells/metabolism ; Prefrontal Cortex/metabolism ; Signal Transduction ; Young Adult

المؤلفون: Hehir-Kwa JY; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Marschall T; Center for Bioinformatics, Saarland University, Saarbrücken 66123, Germany.; Max Plank Institute for Informatics, Saarbrücken 66123, Germany., Kloosterman WP; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands., Francioli LC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; The Broad Institute, Cambridge, Massachusetts 02142, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA., Baaijens JA; Life Sciences Group, Centrum Wiskunde &Informatica, Amsterdam 1098XG, The Netherlands., Dijkstra LJ; Life Sciences Group, Centrum Wiskunde &Informatica, Amsterdam 1098XG, The Netherlands., Abdellaoui A; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam 1081BT, The Netherlands., Koval V; Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands., Thung DT; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Wardenaar R; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Groningen 9713AD, The Netherlands.; Groningen Bioinformatics Centre, University of Groningen, Groningen 9747AG, The Netherlands., Renkens I; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands., Coe BP; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle 98105, USA., Deelen P; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen 9700RB, The Netherlands., de Ligt J; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands., Lameijer EW; Department of Human Genetics, Leiden University Medical Center, Leiden 2300RC, The Netherlands., van Dijk F; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen 9700RB, The Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700RB, The Netherlands., Hormozdiari F; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle 98105, USA., Uitterlinden AG; Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands., van Duijn CM; Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands., Eichler EE; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle 98105, USA., de Bakker PI; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.; Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht 3584CG, The Netherlands., Swertz MA; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen 9700RB, The Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700RB, The Netherlands., Wijmenga C; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen 9700RB, The Netherlands., van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden 2300RC, The Netherlands., Slagboom PE; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden 2300RC, The Netherlands., Boomsma DI; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam 1081BT, The Netherlands., Schönhuth A; Life Sciences Group, Centrum Wiskunde &Informatica, Amsterdam 1098XG, The Netherlands., Ye K; The Genome Institute, Washington University, St Louis, Missouri 63108, USA.; School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an 710049, China.; The First Affiliated Hospital, Xi'an Jiaotong University, Xi'an 710061, China., Guryev V; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Groningen 9713AD, The Netherlands.

مؤلفون مشاركون: Genome of the Netherlands Consortium

المصدر: Nature communications [Nat Commun] 2016 Oct 06; Vol. 7, pp. 12989. Date of Electronic Publication: 2016 Oct 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , Genomic Structural Variation* , Genomics*, Algorithms ; Chromosomes/ultrastructure ; Computational Biology ; Gene Deletion ; Genotype ; Haplotypes ; Humans ; INDEL Mutation ; Linkage Disequilibrium ; Netherlands ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; RNA/metabolism ; Sequence Analysis, DNA ; Sequence Analysis, RNA ; Software