المؤلفون: van Engelen N; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Roest M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Dijk F; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Sonneveld E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Bladergroen R; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Reijmersdal SV; Department of Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van der Velden VHJ; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Hoogeveen PG; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kors WA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Waanders E; Department of Genetics, Utrecht University Medical Center, Utrecht University, Utrecht, The Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, Utrecht University Medical Center, Utrecht University, Utrecht, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. r.kuiper@prinsesmaximacentrum.nl.; Department of Genetics, Utrecht University Medical Center, Utrecht University, Utrecht, The Netherlands. r.kuiper@prinsesmaximacentrum.nl.

المصدر: Leukemia [Leukemia] 2023 Sep; Vol. 37 (9), pp. 1908-1911. Date of Electronic Publication: 2023 Aug 05.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Lymphocytic, Chronic, B-Cell* , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics, Child ; Humans ; Exons/genetics ; PAX5 Transcription Factor/genetics

المؤلفون: Smits WK; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Vermeulen C; Oncode Institute, Utrecht, the Netherlands; Hubrecht Institute-KNAW, Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Hagelaar R; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Oncode Institute, Utrecht, the Netherlands., Kimura S; Laboratory of Pathology, St. Jude's Children's Research Hospital, Memphis TN, USA., Vroegindeweij EM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Buijs-Gladdines JGCAM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., van de Geer E; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Verstegen MJAM; Oncode Institute, Utrecht, the Netherlands; Hubrecht Institute-KNAW, Utrecht, the Netherlands., Splinter E; Cergentis BV, Utrecht, the Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Buijs A; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Galjart N; Department of Cell Biology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands., van Eyndhoven W; Diagnostics and Genomics Group, Agilent Technologies, Amstelveen, the Netherlands., van Min M; Cergentis BV, Utrecht, the Netherlands., Kuiper R; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Kemmeren P; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Mullighan CG; Laboratory of Pathology, St. Jude's Children's Research Hospital, Memphis TN, USA., de Laat W; Oncode Institute, Utrecht, the Netherlands; Hubrecht Institute-KNAW, Utrecht, the Netherlands., Meijerink JPP; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. Electronic address: jules.meijerink@acerta-pharma.com.

المصدر: Cell reports [Cell Rep] 2023 Apr 25; Vol. 42 (4), pp. 112373. Date of Electronic Publication: 2023 Apr 14.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma*/genetics, Humans ; CCCTC-Binding Factor/genetics ; CCCTC-Binding Factor/metabolism ; Chromatin ; Enhancer Elements, Genetic/genetics ; Mutation ; Oncogenes ; Repressor Proteins/genetics ; Repressor Proteins/metabolism ; Transcription Factors/metabolism ; Tumor Suppressor Proteins/metabolism

المؤلفون: Hebert A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Simons A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Koenen HJPM; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Schatorjé EJH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Hoppenreijs EPAH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Leenders EKSM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Janssen EJM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, Netherlands., Santen GWE; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., de Munnik SA; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., van Reijmersdal SV; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., van Rijssen E; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands., Kersten S; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department for Immunology and Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., Smeets RL; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Laboratory Medicine, Laboratory for Diagnostics, Radboud University Medical Center, Nijmegen, Netherlands., van de Veerdonk FL; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., van der Made CI; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.

المصدر: ELife [Elife] 2022 Oct 17; Vol. 11. Date of Electronic Publication: 2022 Oct 17.

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

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Exome* , Hereditary Autoinflammatory Diseases*/genetics, Humans ; Exome Sequencing ; Retrospective Studies ; Sequence Analysis, DNA

المؤلفون: Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Dijk F; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Waanders E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Peer SE; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Koudijs MJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Bladergroen R; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Morgado LM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Bliek J; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Lombardi MP; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Drost J; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Oncode Institute, Utrecht, the Netherlands., de Krijger RR; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2022 Jun 10; Vol. 40 (17), pp. 1892-1902. Date of Electronic Publication: 2022 Mar 01.

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

بيانات الدورية: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/pathology , Kidney Neoplasms*/epidemiology , Kidney Neoplasms*/genetics , Kidney Neoplasms*/pathology , Wilms Tumor*/epidemiology , Wilms Tumor*/genetics , Wilms Tumor*/pathology, Adult ; Causality ; Child ; Genetic Predisposition to Disease ; Genomics ; Germ-Line Mutation ; Humans ; Prevalence

المؤلفون: Antić Ž; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Yu J; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bornhauser BC; Department of Oncology and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland., Lelieveld SH; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van der Ham CG; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Morgado L; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Elitzur S; Pediatric Hematology-Oncology, Schneider Children's Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bourquin JP; Department of Oncology and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland., Cazzaniga G; Centro Ricerca Tettamanti, Fondazione Tettamanti, University of Milan Bicocca, Monza, Italy., Eckert C; Pediatric Oncology/Hematology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Camós M; Leukemia and Other Pediatric Hemopathies, Developmental Tumor Biology Group, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Hematology Laboratory, Hospital Sant Joan de Deu Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sutton R; Molecular Diagnostics, Children's Cancer Institute, University of New South Wales, Sydney, New South Wales, Australia., Cavé H; Department of Genetics, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; INSERM U1131, Saint-Louis Research Institute, University of Paris, Paris, France., Moorman AV; Wolfson Childhood Cancer Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Sonneveld E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., Geurts van Kessel A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Leeuwen FN; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., Waanders E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Jan; Vol. 69 (1), pp. e29361. Date of Electronic Publication: 2021 Oct 01.

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

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Graft vs Host Disease* , Precursor Cell Lymphoblastic Leukemia-Lymphoma*, Child ; Clonal Evolution/genetics ; Genomics ; Humans ; Prognosis ; Recurrence

المؤلفون: Antić Ž; Princess Maxima Center for Pediatric Oncology, Utrecht., Yu J; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen., Van Reijmersdal SV; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen., Van Dijk A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen., Dekker L; Princess Maxima Center for Pediatric Oncology, Utrecht., Segerink WH; Princess Maxima Center for Pediatric Oncology, Utrecht., Sonneveld E; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Dutch Childhood Oncology Group, Utrecht., Fiocco M; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Medical Statistics, Department of Biomedical Data Science, Leiden University Medical Center, Leiden, The Netherlands; Mathematical Institute, Leiden University., Pieters R; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Dutch Childhood Oncology Group, Utrecht., Hoogerbrugge PM; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Dutch Childhood Oncology Group, Utrecht., Van Leeuwen FN; Princess Maxima Center for Pediatric Oncology, Utrecht., Van Kessel AG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen., Waanders E; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht., Kuiper RP; Princess Maxima Center for Pediatric Oncology, Utrecht. r.kuiper@prinsesmaximacentrum.nl.

المصدر: Haematologica [Haematologica] 2021 Dec 01; Vol. 106 (12), pp. 3046-3055. Date of Electronic Publication: 2021 Dec 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

مواضيع طبية MeSH: Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics, Child ; Clone Cells ; Genomics ; Humans ; Mutation ; Prognosis

المؤلفون: Solanich X; Department of Internal Medicine, Hospital Universitari de Bellvitge, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain., Vargas-Parra G; Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Antolí A; Department of Internal Medicine, Hospital Universitari de Bellvitge, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain., Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Rocamora-Blanch G; Department of Internal Medicine, Hospital Universitari de Bellvitge, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain., Setién F; Josep Carreras Leukaemia Research Institute (IJC), Badalona, Spain., Esteller M; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.; Josep Carreras Leukaemia Research Institute (IJC), Badalona, Spain.; Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Spain., van Reijmersdal SV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Riera-Mestre A; Department of Internal Medicine, Hospital Universitari de Bellvitge, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Faculty of Medicine and Health Sciences, Universitat de Barcelona, Barcelona, Spain., Sabater-Riera J; Department of Intensive Care, Hospital Universitari de Bellvitge, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain., Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., van de Veerdonk FL; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, Netherlands., van der Hoven B; Department of Intensive Care, Erasmus MC, Rotterdam, Netherlands., Corbella X; Department of Internal Medicine, Hospital Universitari de Bellvitge, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; School of Medicine, Universitat Internacional de Catalunya, Barcelona, Spain., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.

المصدر: Frontiers in immunology [Front Immunol] 2021 Jul 23; Vol. 12, pp. 719115. Date of Electronic Publication: 2021 Jul 23 (Print Publication: 2021).

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

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , SARS-CoV-2*, COVID-19/*genetics , Toll-Like Receptor 7/*genetics, Adult ; Amino Acid Substitution ; COVID-19/immunology ; COVID-19/pathology ; Genetic Testing ; Humans ; Male ; Middle Aged ; Risk Factors ; Severity of Illness Index ; Toll-Like Receptor 7/immunology

المؤلفون: van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van den Heuvel G; Pulmonology Department, Radboud University Medical Center, Nijmegen, the Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kersten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., van Deuren RC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Steehouwer M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Reijmersdal SV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Jaeger M; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Corominas Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van der Schoot V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., van der Hoeven H; Department of Intensive Care, Radboud University Medical Center Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Hagmolen Of Ten Have W; Pulmonology Department, Radboud University Medical Center, Nijmegen, the Netherlands., Klijn E; Department of Intensive Care, Erasmus Medical Center, Rotterdam, the Netherlands., van den Meer C; Department of Intensive Care, Ziekenhuis Rivierenland, Tiel, the Netherlands., Fiddelaers J; Department of Pulmonology, Admiraal de Ruyter Ziekenhuis, Goes, the Netherlands., de Mast Q; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Bleeker-Rovers CP; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Joosten LAB; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van der Meer JWM; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; GROW School of Oncology and developmental biology, and MHeNs School of Mental Health and Neuroscience, Maastricht University, the Netherlands., Netea MG; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.; Immunology and Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., van de Veerdonk FL; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud University Medical Center Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.

المصدر: JAMA [JAMA] 2020 Aug 18; Vol. 324 (7), pp. 663-673.

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

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

مواضيع طبية MeSH: Loss of Function Mutation*, COVID-19/*virology , SARS-CoV-2/*genetics, Adult ; Enzyme-Linked Immunosorbent Assay ; Fatal Outcome ; Hospitalization ; Humans ; Intensive Care Units ; Leukocytes, Mononuclear ; Male ; Netherlands ; Pedigree ; RNA, Viral/analysis ; Real-Time Polymerase Chain Reaction ; SARS-CoV-2/isolation & purification ; Young Adult

المؤلفون: Yu J; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Radboud university medical center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Waanders E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Radboud university medical center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Antić Ž; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Bosbeek CM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Sonneveld E; Dutch Childhood Oncology Group, The Hague, The Netherlands., de Groot H; Dutch Childhood Oncology Group, The Hague, The Netherlands., Fiocco M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Medical Statistics, Department of Biomedical Data Science, Leiden University Medical Center, Leiden, The Netherlands.; Mathematical Institute, Leiden University, The Netherlands., Geurts van Kessel A; Department of Human Genetics, Radboud university medical center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., van Leeuwen FN; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Pieters R; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, The Hague, The Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, The Hague, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

المصدر: HemaSphere [Hemasphere] 2020 Jan 22; Vol. 4 (1), pp. e318. Date of Electronic Publication: 2020 Jan 22 (Print Publication: 2020).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE

المؤلفون: Diets IJ; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Hoyer J; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Ekici AB; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Popp B; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Hoogerbrugge N; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., van Reijmersdal SV; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Bhaskaran R; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hadjihannas M; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Vasileiou G; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Thiel CT; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Seven D; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany.; Department of Medical Biology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Uebe S; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Ilencikova D; Department of Pediatrics, Children's University Hospital, Comenius University, Bratislava, Slovakia., Waanders E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Mavinkurve-Groothuis AMC; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.; Department of Pediatrics, Radboudumc Amalia's Children's Hospital, Nijmegen, The Netherlands., de Krijger RR; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands., Wegert J; Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, and Comprehensive Cancer Center Mainfranken, University of Würzburg, Würzburg, Germany., Graf N; Department of Pediatric Hematology and Oncology, Saarland University, Medical Center Homburg/Saar, Homburg, Germany., Vokuhl C; Kiel Pediatric Tumor Registry, Section of Pediatric Pathology, Department of Pathology, Christian Albrechts University, Kiel, Germany., Agaimy A; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Gessler M; Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, and Comprehensive Cancer Center Mainfranken, University of Würzburg, Würzburg, Germany., Reis A; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Institute of Human Genetics, Erlangen, Germany., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Jongmans MCJ; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Metzler M; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

المصدر: International journal of cancer [Int J Cancer] 2019 Aug 15; Vol. 145 (4), pp. 941-951. Date of Electronic Publication: 2019 Feb 14.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0215 (Electronic) Linking ISSN: 00207136 NLM ISO Abbreviation: Int J Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Haploinsufficiency/*genetics , Tripartite Motif-Containing Protein 28/*genetics , Wilms Tumor/*genetics, Carcinogenesis/genetics ; Child, Preschool ; DNA, Neoplasm/genetics ; Female ; Genes, Wilms Tumor/physiology ; Genetic Predisposition to Disease/genetics ; Genotype ; Germ-Line Mutation/genetics ; Heterozygote ; Humans ; Infant ; Kidney Neoplasms/genetics ; Loss of Function Mutation/genetics ; Loss of Heterozygosity/genetics ; Male ; Exome Sequencing/methods