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: Madsen MB; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Kiss K; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Cilius Nielsen F; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bennedbæk FN; Department of Endocrinology, Herlev University Hospital, Herlev, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Mar 24; Vol. 11, pp. 146. Date of Electronic Publication: 2020 Mar 24 (Print Publication: 2020).

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

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Adenocarcinoma, Follicular/*diagnosis , Biomarkers, Tumor/*genetics , DNA, Neoplasm/*analysis , High-Throughput Nucleotide Sequencing/*methods , Thyroid Neoplasms/*diagnosis, Adenocarcinoma, Follicular/genetics ; DNA, Neoplasm/genetics ; Humans ; Paraffin Embedding ; Thyroid Neoplasms/genetics ; Tissue Fixation

المؤلفون: Frederiksen A; Department of Clinical Genetics, University of Southern Denmark, Odense, Denmark.; Department of Clinical Research, Faculty of Health, University of Southern Denmark, Odense, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Hermann P; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Ejersted C; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Thakker RV; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & Metabolism, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, United Kingdom., Frost M; Department of Clinical Research, Faculty of Health, University of Southern Denmark, Odense, Denmark.; Department of Endocrinology, Odense University Hospital, Odense, Denmark.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Sep 01; Vol. 104 (9), pp. 3637-3646.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Cyclin-Dependent Kinase Inhibitor p27/*genetics , Hypercalcemia/*pathology , Hyperparathyroidism, Primary/*pathology , Multiple Endocrine Neoplasia/*pathology , Neuroendocrine Tumors/*pathology , Pituitary Neoplasms/*pathology, Biomarkers/analysis ; Female ; Humans ; Hypercalcemia/genetics ; Hyperparathyroidism, Primary/genetics ; Loss of Heterozygosity ; Male ; Middle Aged ; Multiple Endocrine Neoplasia/genetics ; Neuroendocrine Tumors/genetics ; Pedigree ; Pituitary Neoplasms/genetics ; Prognosis

SCR Disease Name: Multiple Endocrine Neoplasia, Type IV

المؤلفون: Høxbroe Michaelsen S; Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Ornstrup MJ; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Poulsen MM; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Bennedbaek FN; Department of Endocrinology, Herlev and Gentofte University Hospital, Herlev, Denmark., Gaustadnes M; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Darling P; Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Vestergaard P; Department of Clinical Medicine and Endocrinology, Aalborg University Hospital, Aalborg, Denmark.; Steno Diabetes Center North Jutland, Aalborg University Hospital, Aalborg, Denmark., Mathiesen JS; Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

المصدر: Journal of surgical oncology [J Surg Oncol] 2019 May; Vol. 119 (6), pp. 687-693. Date of Electronic Publication: 2019 Jan 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0222643 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9098 (Electronic) Linking ISSN: 00224790 NLM ISO Abbreviation: J Surg Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Heterozygote* , Mutation*, Genetic Predisposition to Disease/*epidemiology , Proto-Oncogene Proteins c-ret/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Medullary/genetics ; Child ; Cohort Studies ; Denmark/epidemiology ; Follow-Up Studies ; Humans ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/genetics ; Pheochromocytoma/genetics ; Thyroid Neoplasms/genetics ; Young Adult

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: Soenderstrup IMH; a Department of Surgical Pathology Region Zealand , Zealand University Hospital , Slagelse , Denmark., Laenkholm AV; a Department of Surgical Pathology Region Zealand , Zealand University Hospital , Slagelse , Denmark., Jensen MB; b Danish Breast Cancer Group , Rigshospitalet, Copenhagen University Hospital , Copenhagen , Denmark., Eriksen JO; a Department of Surgical Pathology Region Zealand , Zealand University Hospital , Slagelse , Denmark., Gerdes AM; c Department of Clinical Genetics , Rigshospitalet, Copenhagen University Hospital , Copenhagen , Denmark., Hansen TVO; d Center for Genomic Medicine , Rigshospitalet Copenhagen University Hospital , Copenhagen , Denmark., Kruse TA; e Department of Clinical Genetics , Odense University Hospital , Odense , Denmark., Larsen MJ; e Department of Clinical Genetics , Odense University Hospital , Odense , Denmark., Pedersen IS; f Section of Molecular Diagnostics , Clinical Biochemistry, Aalborg University Hospital , Aalborg , Denmark., Rossing M; d Center for Genomic Medicine , Rigshospitalet Copenhagen University Hospital , Copenhagen , Denmark., Thomassen M; e Department of Clinical Genetics , Odense University Hospital , Odense , Denmark., Ejlertsen B; a Department of Surgical Pathology Region Zealand , Zealand University Hospital , Slagelse , Denmark.; g Department of Oncology , Rigshospitalet, Copenhagen University Hospital , Copenhagen , Denmark.

المصدر: Acta oncologica (Stockholm, Sweden) [Acta Oncol] 2018 Jan; Vol. 57 (1), pp. 95-101. Date of Electronic Publication: 2017 Nov 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Medical Journals Sweden AB Country of Publication: England NLM ID: 8709065 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-226X (Electronic) Linking ISSN: 0284186X NLM ISO Abbreviation: Acta Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, BRCA1 Protein/*genetics , BRCA2 Protein/*genetics , Breast Neoplasms/*genetics , Breast Neoplasms/*mortality, Adolescent ; Adult ; Aged ; Breast Neoplasms/pathology ; Breast Neoplasms/therapy ; Chemotherapy, Adjuvant ; Denmark/epidemiology ; Disease-Free Survival ; Female ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Mastectomy ; Middle Aged ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/pathology ; Registries ; Young Adult

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المؤلفون: Soenderstrup, I M H, Laenkholm, A V, Jensen, M B, Eriksen, J O, Gerdes, A M, Hansen, T V O, Kruse, T A, Larsen, M J, Pedersen, I S, Rossing, M, Thomassen, M, Ejlertsen, B

المصدر: Soenderstrup, I M H, Laenkholm, A V, Jensen, M B, Eriksen, J O, Gerdes, A M, Hansen, T V O, Kruse, T A, Larsen, M J, Pedersen, I S, Rossing, M, Thomassen, M & Ejlertsen, B 2018, ' Clinical and molecular characterization of BRCA-associated breast cancer : results from the DBCG ', Acta Oncologica, vol. 57, no. 1, pp. 95-101 . https://doi.org/10.1080/0284186X.2017.1398415

مصطلحات موضوعية: Adult, Heterozygote, endocrine system diseases, Adolescent, Breast Neoplasms/genetics, Middle Aged, BRCA2 Protein/genetics, Denmark/epidemiology, Disease-Free Survival, Young Adult, Chemotherapy, Adjuvant, Mutation, BRCA1 Protein/genetics, Humans, Female, Genetic Predisposition to Disease, Registries, Neoplasm Recurrence, Local/genetics, skin and connective tissue diseases, Mastectomy, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7e0eeae6831ae41178878f39edc61168
https://vbn.aau.dk/da/publications/effe281f-f68c-4286-992e-cfbf3aafbe9e

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