المؤلفون: Main AM; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Benndorf G; Department of Radiology, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Radiology, Baylor College of Medicine, Houston, TX, United States., Feldt-Rasmussen U; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Fugleholm K; Department of Neurosurgery, Copenhagen University Hospital, Copenhagen, Denmark., Kistorp T; Department of Anaesthesiology, Copenhagen University, Copenhagen, Denmark., Loya AC; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark., Poulsgaard L; Department of Neurosurgery, Copenhagen University Hospital, Copenhagen, Denmark., Rasmussen ÅK; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen, Denmark., Sølling C; Department of Neuroanaesthesiology, Copenhagen University Hospital, Copenhagen, Denmark., Klose MC; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Apr 13; Vol. 13, pp. 857504. Date of Electronic Publication: 2022 Apr 13 (Print Publication: 2022).

نوع المنشور: Case Reports

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: Labetalol* , Paraganglioma*/genetics , Paraganglioma*/surgery, Adult ; Female ; Humans ; Mutation ; Normetanephrine ; PTEN Phosphohydrolase ; Skull Base ; Succinate Dehydrogenase

المؤلفون: Hansen AR; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Borgwardt L; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Rasmussen ÅK; Department of Endocrinology and Metabolism, Copenhagen University Hospital, Copenhagen, Denmark., Godballe C; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Poulsen MM; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Vieira FG; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Mathiesen JS; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Dec 01; Vol. 12, pp. 764512. Date of Electronic Publication: 2021 Dec 01 (Print Publication: 2021).

نوع المنشور: Journal Article

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: Genetic Variation/*genetics , Germ-Line Mutation/*genetics , Leucine/*genetics , Methionine/*genetics , Multiple Endocrine Neoplasia Type 2a/*genetics , Proto-Oncogene Proteins c-ret/*genetics, Adult ; Aged ; Aged, 80 and over ; Cohort Studies ; Denmark/epidemiology ; Female ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/diagnosis ; Multiple Endocrine Neoplasia Type 2a/epidemiology

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: Altaraihi M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Santoni-Rugiu E; Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rasmussen ÅK; Department of Endocrinology and Metabolism, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Sep 06; Vol. 12, pp. 727970. Date of Electronic Publication: 2021 Sep 06 (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: 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: DEAD-box RNA Helicases/*genetics , Goiter, Nodular/*epidemiology , Goiter, Nodular/*genetics , Ribonuclease III/*genetics, Adult ; Cohort Studies ; Denmark/epidemiology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Goiter, Nodular/surgery ; Humans ; Male ; Prevalence ; Thyroid Nodule/epidemiology ; Thyroid Nodule/genetics ; Thyroid Nodule/surgery ; Thyroidectomy ; Young Adult

المؤلفون: Mathiesen JS; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Nielsen SG; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Rasmussen ÅK; Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark., Kiss K; Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hermann AP; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Nielsen MF; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Larsen SR; Department of Pathology, Odense University Hospital, Odense, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Frederiksen AL; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Godballe C; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Apr 28; Vol. 11, pp. 251. Date of Electronic Publication: 2020 Apr 28 (Print Publication: 2020).

نوع المنشور: Case Reports; Comparative Study; 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: Germ-Line Mutation*, Carcinoma, Neuroendocrine/*pathology , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*pathology, Adolescent ; Aged ; Carcinoma, Neuroendocrine/blood ; Carcinoma, Neuroendocrine/genetics ; Female ; Humans ; Prognosis ; Retrospective Studies ; Thyroid Neoplasms/blood ; Thyroid Neoplasms/genetics

SCR Disease Name: Thyroid cancer, medullary

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