المؤلفون: Zaninetti C; Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany. Electronic address: https://twitter.com/ZaninettiCarlo., Leinøe E; Department of Haematology, Rigshospitalet University Hospital, Copenhagen, Denmark; Department of Genomic Medicine, Rigshospitalet University Hospital, Copenhagen, Denmark., Lozano ML; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-U765, Murcia, Spain., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bastida JM; Department of Hematology, Complejo Asistencial Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca, Universidad de Salamanca, Salamanca, Spain; Grupo Español de Alteraciones Plaquetarias Congénitas, Spanish Society of Thrombosis and Haemostasis, Madrid, Spain., Zetterberg E; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Rivera J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-U765, Murcia, Spain; Grupo Español de Alteraciones Plaquetarias Congénitas, Spanish Society of Thrombosis and Haemostasis, Madrid, Spain., Greinacher A; Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany. Electronic address: andreas.greinacher@med.uni-greifswald.de.

المصدر: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Apr; Vol. 21 (4), pp. 1010-1019. Date of Electronic Publication: 2023 Jan 10.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE

مواضيع طبية MeSH: Blood Platelet Disorders*/diagnosis , Blood Platelet Disorders*/genetics , Thrombocytopenia*/pathology, Humans ; Blood Platelets/pathology ; Platelet Function Tests ; Fluorescent Antibody Technique

المؤلفون: Smolag KI; Section of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden., Fager Ferrari M; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Zetterberg E; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Leinoe E; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Ek T; Children's Cancer Center, Queen Silvia Children's Hospital, Gothenburg, Sweden., Blom AM; Section of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Martin M; Section of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden.

المصدر: Frontiers in immunology [Front Immunol] 2021 Nov 09; Vol. 12, pp. 777402. Date of Electronic Publication: 2021 Nov 09 (Print Publication: 2021).

نوع المنشور: Journal Article; 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: Heterozygote* , Mutation*, Blood Platelets/*metabolism , Complement Activation/*immunology , Multienzyme Complexes/*genetics , Thrombocytopenia/*diagnosis , Thrombocytopenia/*etiology, Adolescent ; Alleles ; Blood Platelets/immunology ; Blood Platelets/ultrastructure ; Complement System Proteins/immunology ; Complement System Proteins/metabolism ; Genetic Association Studies ; Genetic Predisposition to Disease ; Hemolysis ; Humans ; Leukocytes/metabolism ; Leukocytes/pathology ; Male ; N-Acetylneuraminic Acid/metabolism ; Phenotype ; Platelet Function Tests ; Thrombocytopenia/blood ; Whole Genome Sequencing

المؤلفون: Leinøe E; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Brøns N; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rasmussen AØ; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gabrielaite M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Zaninetti C; Department of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany., Palankar R; Department of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany., Zetterberg E; Coagulation Unit, Skaane University Hospital, Malmø, Sweden., Rosthøj S; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

المصدر: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Nov; Vol. 19 (11), pp. 2884-2892. Date of Electronic Publication: 2021 Aug 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE

مواضيع طبية MeSH: Bernard-Soulier Syndrome*/diagnosis , Bernard-Soulier Syndrome*/genetics , Thrombocytopenia*/diagnosis , Thrombocytopenia*/genetics, Denmark ; Homozygote ; Humans ; Pedigree ; Platelet Glycoprotein GPIb-IX Complex/genetics

المؤلفون: Brøns N; Department of Hematology.; Department of Clinical Immunology., Leinøe E; Department of Hematology., Salado-Jimena JA; Department of Clinical Immunology., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, København, Denmark., Ostrowski SR; Department of Clinical Immunology.

المصدر: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2021 Oct 01; Vol. 32 (7), pp. 480-490.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams And Wilkins Country of Publication: England NLM ID: 9102551 Publication Model: Print Cited Medium: Internet ISSN: 1473-5733 (Electronic) Linking ISSN: 09575235 NLM ISO Abbreviation: Blood Coagul Fibrinolysis Subsets: MEDLINE

مواضيع طبية MeSH: Cell-Derived Microparticles/*metabolism , Hemorrhage/*metabolism , Phosphatidylserines/*metabolism , Thrombocytopenia/*metabolism, Adult ; Aged ; Blood Coagulation ; Blood Platelets/cytology ; Blood Platelets/metabolism ; Female ; Hemorrhage/blood ; Hemorrhage/etiology ; Humans ; Male ; Middle Aged ; Phosphatidylserines/blood ; Platelet Activation ; Thrombocytopenia/blood ; Thrombocytopenia/complications ; Young Adult

المؤلفون: Brøns N; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark., Zaninetti C; Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Denmark., Petersen J; Department of Haematology Research Laboratory, Herlev Hospital, Copenhagen University Hospital, Denmark., Greinacher A; Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Leinøe E; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark.

المصدر: Platelets [Platelets] 2021 Jul 04; Vol. 32 (5), pp. 701-704. Date of Electronic Publication: 2020 Jul 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE

مواضيع طبية MeSH: Hemorrhage/*physiopathology , Proto-Oncogene Proteins/*metabolism , Repressor Proteins/*metabolism , Thrombocytopenia/*physiopathology, Adult ; Female ; Homozygote ; Humans ; Middle Aged ; Mutation

المؤلفون: Leinøe E; Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Gabrielaite M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Østrup O; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Funding E; Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Greinacher A; Institure for Immunology and Transfusion Medicine, University Hospital, Greifswald, Germany., Ostrowski SR; Department of Clinical Immunology, Rigshospitalet, Copenhagen, Denmark., Zetterberg E; Haematology and Coagulation Unit, Skaane University Hospital, Malmö, Sweden., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: British journal of haematology [Br J Haematol] 2019 Jul; Vol. 186 (2), pp. 373-376. Date of Electronic Publication: 2019 Mar 25.

نوع المنشور: Clinical Trial; Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics , Genotyping Techniques* , High-Throughput Nucleotide Sequencing* , Polymorphism, Single Nucleotide* , Thrombocytopenia*/diagnosis , Thrombocytopenia*/genetics, Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Male ; Middle Aged