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: Leinoe E; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Kjaersgaard M; Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Zetterberg E; Department of Translational Medicine, Lund University, Malmö, Sweden., Ostrowski S; Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Greinacher A; Department of Immunology and Transfusion Medicine, Greifswald University Hospital, Greifswald, Germany., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: Platelets [Platelets] 2021 May 19; Vol. 32 (4), pp. 492-497. Date of Electronic Publication: 2020 May 18.

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: Blood Platelets/*ultrastructure , Genetic Variation/*genetics , Ikaros Transcription Factor/*metabolism, Child, Preschool ; Female ; Gene Expression Regulation ; Humans ; Middle Aged

المؤلفون: Fager Ferrari M; a Department of Translational Medicine , Lund University , Malmö , Sweden., Leinoe E; b Department of Hematology, Rigshospitalet , Copenhagen University Hospital , Copenhagen , Denmark., Rossing M; c Department of Genomic Medicine, Rigshospitalet , Copenhagen University Hospital , Copenhagen , Denmark., Norström E; a Department of Translational Medicine , Lund University , Malmö , Sweden., Strandberg K; d Department of Laboratory Medicine , Lund University , Malmö , Sweden., Steen Sejersen T; e Department of Biomedical Sciences, Core Facility for Integrated Microscopy (CFIM) , University of Copenhagen , Denmark., Qvortrup K; e Department of Biomedical Sciences, Core Facility for Integrated Microscopy (CFIM) , University of Copenhagen , Denmark., Zetterberg E; a Department of Translational Medicine , Lund University , Malmö , Sweden.

المصدر: Platelets [Platelets] 2018 Jan; Vol. 29 (1), pp. 56-64. Date of Electronic Publication: 2017 Apr 11.

نوع المنشور: 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: Genetic Predisposition to Disease* , Germ-Line Mutation* , Heterozygote* , Mutation*, Hemorrhage/*etiology , Lymphohistiocytosis, Hemophagocytic/*complications , Lymphohistiocytosis, Hemophagocytic/*genetics, Adolescent ; Adult ; Blood Platelets/metabolism ; Blood Platelets/ultrastructure ; Child ; Child, Preschool ; Comorbidity ; Female ; Flow Cytometry ; Humans ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Lymphohistiocytosis, Hemophagocytic/metabolism ; Male ; Membrane Proteins/genetics ; Middle Aged ; Models, Biological ; Munc18 Proteins/genetics ; Platelet Count ; Qa-SNARE Proteins/genetics ; Secretory Vesicles/metabolism ; Secretory Vesicles/ultrastructure ; Whole Genome Sequencing ; Young Adult

المؤلفون: Ohrt-Nissen S; Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. ohrtnissen@gmail.com, Døssing KB, Rossing M, Lajer C, Vikeså J, Nielsen FC, Friis-Hansen L, Dahl B

المصدر: Connective tissue research [Connect Tissue Res] 2013; Vol. 54 (3), pp. 197-203. Date of Electronic Publication: 2013 Apr 15.

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

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0365263 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8438 (Electronic) Linking ISSN: 03008207 NLM ISO Abbreviation: Connect Tissue Res Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Profiling* , Gene Expression Regulation*, Intervertebral Disc/*pathology , Intervertebral Disc Degeneration/*genetics , Lumbar Vertebrae/*pathology , MicroRNAs/*genetics, Humans ; In Situ Hybridization ; MicroRNAs/metabolism ; Muscles/metabolism ; Muscles/pathology ; Polymerase Chain Reaction ; Principal Component Analysis ; Reproducibility of Results ; Signal Transduction/genetics

المؤلفون: Rossing M; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark. maria.rossing@rh.regionh.dk, Kaczkowski B, Futoma-Kazmierczak E, Glud M, Klausen M, Faber J, Nygaard B, Kiss K, Sørensen CH, Nielsen FC, Bennedbæk FN, Friis-Hansen L

المصدر: Scandinavian journal of clinical and laboratory investigation [Scand J Clin Lab Invest] 2010 Dec; Vol. 70 (8), pp. 529-34. Date of Electronic Publication: 2010 Oct 15.

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

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0404375 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1502-7686 (Electronic) Linking ISSN: 00365513 NLM ISO Abbreviation: Scand J Clin Lab Invest Subsets: MEDLINE

مواضيع طبية MeSH: MicroRNAs/*genetics , MicroRNAs/*isolation & purification , Oligonucleotide Array Sequence Analysis/*methods , Thyroid Gland/*metabolism , Thyroid Gland/*pathology, Biopsy, Fine-Needle ; Gene Expression Profiling ; Gene Expression Regulation ; Humans ; MicroRNAs/metabolism ; Reproducibility of Results