المؤلفون: Bobby P. C. Koeleman, Burbach Jph, van Haaften Gw, van Zandvoort Mj, Eva H. Brilstra, Ellen V. S. Hessel, van der Spek Pj, de Kovel Cg, Nijboer Tc, van der Zwaag B, Troelstra C

مصطلحات موضوعية: Genetics, MYO15A, Candidate gene, Genetic linkage, Agnosia, Trait, medicine, Identification (biology), Biology, medicine.symptom, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::afecf9bf53b5212653d945ee563a9423
https://doi.org/10.1101/2021.10.01.21263387

المؤلفون: Broekema, MF, Massink, MPG, Donato, C, De Ligt, J, Schaarschmidt, J, Schooneman, MG, Melchers, D, Gerding, MN, Houtman, R, Bonvin, AMJJ, Majithia, AR, Monajemi, H, Van Haaften, GW, Soeters, MR, Kalkhoven, E

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3587d1beb7ac6837187073c0a078de1e

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المؤلفون: Nijboer TCW; UMCU Brain Center and Center of Excellence for Rehabilitation Medicine, University Medical Center Utrecht and De Hoogstraat Rehabilitation, Utrecht, The Netherlands.; Department of Experimental Psychology and Helmholtz Institute, Utrecht University, Utrecht, The Netherlands., Hessel EVS; UMCU Brain Center and Center of Excellence for Rehabilitation Medicine, University Medical Center Utrecht and De Hoogstraat Rehabilitation, Utrecht, The Netherlands.; Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Haaften GW; Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Zandvoort MJ; Department of Experimental Psychology and Helmholtz Institute, Utrecht University, Utrecht, The Netherlands., van der Spek PJ; Department of Pathology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., Troelstra C; Department of Pathology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., de Kovel CGF; Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koeleman BPC; Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Zwaag B; Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Brilstra EH; Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Burbach JPH; UMCU Brain Center, Department of Translational Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.

المصدر: PloS one [PLoS One] 2023 Sep 06; Vol. 18 (9), pp. e0290013. Date of Electronic Publication: 2023 Sep 06 (Print Publication: 2023).

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

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: Agnosia*/genetics, Humans ; Brain ; Color ; Cytoskeletal Proteins ; RNA-Binding Proteins ; Vesicular Transport Proteins

المؤلفون: Muffels IJJ; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands; Center for Translational Immunology (CTI), Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Schene IF; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany., Massink MPG; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van der Wal MM; Center for Translational Immunology (CTI), Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bauder C; Department of Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, Munich, Germany., Labeur M; Department of Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany., Armando NG; Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina., Lequin MH; Division Imaging and Oncology University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Houben ML; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Giltay JC; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Haitjema S; Central Diagnostics Laboratory, University Medical Center Utrecht, Utrecht, the Netherlands., Huisman A; Central Diagnostics Laboratory, University Medical Center Utrecht, Utrecht, the Netherlands., Vansenne F; Department of Medical Genetics, University Medical Center Groningen, Groningen, the Netherlands., Bluvstein J; Dravet Center and Comprehensive Epilepsy Center, NYU School of Medicine, New York, NY, USA., Pappas J; NYU Clinical Genetic Services, NYU Grossman School of Medicine, New York, NY, USA., Shailee LV; Department of Radiology, NYU Grossman School of Medicine, New York, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Mokry M; Laboratory of Experimental Cardiology, Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands., van Haaften GW; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Nieuwenhuis EES; Department of Biomedical and Life Sciences, University College Roosevelt, Middelburg, the Netherlands., Refojo D; Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina; Molecular Neurobiology, Max Planck Institute of Psychiatry, Munich, Germany., van Wijk F; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Fuchs SA; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., van Hasselt PM; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address: p.vanhasselt@umcutrecht.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 146-160.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Lymphopenia*/genetics, Humans ; NEDD8 Protein/genetics ; NEDD8 Protein/metabolism ; Signal Transduction/genetics ; NF-kappa B/metabolism ; Proteasome Endopeptidase Complex/metabolism

المؤلفون: Besteman SB; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands.; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., Phung E; Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Raeven HHM; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Amatngalim GD; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Rumpret M; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands.; Oncode Institute, Utrecht, the Netherlands., Crabtree J; Department of Infectious Diseases and Immunology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Schepp RM; National Institute of Public Health and the Environment (RIVM), Bilthoven, the Netherlands., Rodenburg LW; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Siemonsma SG; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands., Verleur N; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., van Slooten R; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands., Duran K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., van Haaften GW; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Beekman JM; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Chang LA; Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Meyaard L; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands.; Oncode Institute, Utrecht, the Netherlands., van der Bruggen T; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, the Netherlands., Berbers GAM; National Institute of Public Health and the Environment (RIVM), Bilthoven, the Netherlands., Derksen N; RSV Patient Network, ReSVinet, Zeist, the Netherlands., Nierkens S; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands., Morabito KM; Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Ruckwardt TJ; Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Kurt-Jones EA; Department of Infectious Diseases and Immunology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Golenbock D; Department of Infectious Diseases and Immunology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Graham BS; Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Bont LJ; Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, the Netherlands.; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.

المصدر: The Journal of infectious diseases [J Infect Dis] 2022 Aug 24; Vol. 226 (2), pp. 258-269.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0413675 Publication Model: Print Cited Medium: Internet ISSN: 1537-6613 (Electronic) Linking ISSN: 00221899 NLM ISO Abbreviation: J Infect Dis Subsets: MEDLINE

مواضيع طبية MeSH: Respiratory Syncytial Virus Infections*, Cytokines ; Humans ; Leukocytes, Mononuclear/metabolism ; Lipopolysaccharide Receptors/deficiency ; Respiratory Syncytial Virus, Human

المؤلفون: Groeneweg JW; Department of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: j.w.groeneweg-11@umcutrecht.nl., Roze JF; Department of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Peters EDJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Sereno F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Brink AGJ; Department of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Paijens ST; Department of Obstetrics and Gynecology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Nijman HW; Department of Obstetrics and Gynecology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., van Meurs HS; Department of Gynecologic Oncology, Center for Gynecologic Oncology Amsterdam, Amsterdam University Medical Center, Amsterdam, the Netherlands., van Lonkhuijzen LRCW; Department of Gynecologic Oncology, Center for Gynecologic Oncology Amsterdam, Amsterdam University Medical Center, Amsterdam, the Netherlands., Piek JMJ; Department of Obstetrics and Gynecology, Catharina Hospital, Eindhoven, the Netherlands., Lok CAR; Department of Gynecologic Oncology, Center for Gynecologic Oncology Amsterdam, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands., Monroe GR; Department of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Haaften GW; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Zweemer RP; Department of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

المصدر: Gynecologic oncology [Gynecol Oncol] 2021 Aug; Vol. 162 (2), pp. 413-420. Date of Electronic Publication: 2021 Jun 01.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 0365304 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-6859 (Electronic) Linking ISSN: 00908258 NLM ISO Abbreviation: Gynecol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers, Tumor/*genetics , Forkhead Box Protein L2/*genetics , Granulosa Cell Tumor/*diagnosis , Neoplasm Recurrence, Local/*diagnosis , Ovarian Neoplasms/*diagnosis , Telomerase/*genetics, Aged ; Aged, 80 and over ; Biomarkers, Tumor/blood ; Circulating Tumor DNA/blood ; Circulating Tumor DNA/genetics ; Female ; Granulosa Cell Tumor/blood ; Granulosa Cell Tumor/genetics ; Humans ; Middle Aged ; Mutation ; Neoplasm Recurrence, Local/blood ; Neoplasm Recurrence, Local/genetics ; Ovarian Neoplasms/blood ; Ovarian Neoplasms/genetics ; Promoter Regions, Genetic/genetics ; Prospective Studies

المؤلفون: Broekema MF; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Massink MPG; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Donato C; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., de Ligt J; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Schaarschmidt J; Bijvoet Center for Biomolecular Research, Faculty of Science, Utrecht University, Utrecht, the Netherlands., Borgman A; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Schooneman MG; Department of Internal Medicine, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Melchers D; PamGene International B. V., 's-Hertogenbosch, the Netherlands., Gerding MN; Deventer Hospital, Deventer, the Netherlands., Houtman R; PamGene International B. V., 's-Hertogenbosch, the Netherlands., Bonvin AMJJ; Bijvoet Center for Biomolecular Research, Faculty of Science, Utrecht University, Utrecht, the Netherlands., Majithia AR; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA., Monajemi H; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Rijnstate Hospital, Arnhem, the Netherlands., van Haaften GW; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Soeters MR; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Kalkhoven E; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: e.kalkhoven@umcutrecht.nl.

المصدر: Molecular metabolism [Mol Metab] 2019 Feb; Vol. 20, pp. 115-127. Date of Electronic Publication: 2018 Dec 16.

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

بيانات الدورية: Publisher: Elsevier GmbH Country of Publication: Germany NLM ID: 101605730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-8778 (Electronic) Linking ISSN: 22128778 NLM ISO Abbreviation: Mol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Lipodystrophy, Familial Partial/*genetics , PPAR gamma/*genetics, Adult ; Binding Sites ; Cell Line, Tumor ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; Female ; HEK293 Cells ; Humans ; Lipodystrophy, Familial Partial/pathology ; PPAR gamma/chemistry ; PPAR gamma/metabolism ; Phenotype ; Protein Multimerization

المؤلفون: Broekema MF; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., Massink MPG; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., De Ligt J; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., Stigter ECA; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., Monajemi H; Institute of Metabolic Science, Academic Medical Center, Amsterdam, Netherlands.; Rijnstate Hospital, Arnhem, Netherlands., De Ridder J; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., Burgering BMT; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., van Haaften GW; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands., Kalkhoven E; Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands.

المصدر: Frontiers in physiology [Front Physiol] 2018 Sep 26; Vol. 9, pp. 1363. Date of Electronic Publication: 2018 Sep 26 (Print Publication: 2018).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE