المؤلفون: Birke Bausch, Hartmut P. H. Neumann, Frederik J. Hes, Eleonora P M Corssmit, Johannes A. Rijken, Jeroen C. Jansen, Leonie T. van Hulsteijn, David B. Ascher, Douglas E. V. Pires, Erik F. Hensen, Peter Devilee, Jean-Pierre Bayley

المساهمون: Clinical sciences, Otolaryngology / Head & Neck Surgery

المصدر: Bayley, J P, Bausch, B, Rijken, J A, Van Hulsteijn, L T, Jansen, J C, Ascher, D, Pires, D E V, Hes, F J, Hensen, E F, Corssmit, E P M, Devilee, P & Neumann, H P H 2020, ' Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma ', Journal of Medical Genetics, vol. 57, no. 2, pp. 96-103 . https://doi.org/10.1136/jmedgenet-2019-106214Test
Journal of Medical Genetics, 57(2), 96-103. BMJ Publishing Group
Journal of Medical Genetics, 57(2), 96-103. BMJ PUBLISHING GROUP

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, SDHB, Mutation, Missense, Kaplan-Meier Estimate, Pheochromocytoma, 030105 genetics & heredity, Paraganglioma, 03 medical and health sciences, Germline mutation, Genetics, medicine, Humans, Missense mutation, Germ-Line Mutation, Genetics (clinical), Medicine(all), Variant type, business.industry, Membrane Proteins, Middle Aged, medicine.disease, SDHC, Penetrance, SDHD, genotype-phenotype, Succinate Dehydrogenase, 030104 developmental biology, Head and Neck Neoplasms, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a817ac92ed8d0ec54ace03874bfb4daTest
https://doi.org/10.1136/jmedgenet-2019-106214Test

المؤلفون: Judith Favier, Judith V.M.G. Bovée, Peter Devilee, Erik F. Hensen, Anne-Paule Gimenez-Roqueplo, Frederik J. Hes, Aurélien Morini, Heggert Rebel, Jean-Pierre Bayley, Juan Zhang, Alexandre Buffet, Eleonora P M Corssmit, Jeroen C. Jansen

المساهمون: Clinical sciences, Medical Genetics, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Paris (UP)

المصدر: The Journal of Clinical Endocrinology & Metabolism
The Journal of Clinical Endocrinology & Metabolism, 2020, ⟨10.1210/clinem/dgaa819⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), 459-471. ENDOCRINE SOC

مصطلحات موضوعية: 0301 basic medicine, Male, dihydrolipoamide S-succinyltransferase, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Adrenal Gland Neoplasms, Compound heterozygosity, medicine.disease_cause, Biochemistry, Germline, Epigenesis, Genetic, Exon, 0302 clinical medicine, Endocrinology, Paraganglioma, Missense mutation, Genetics(clinical), Genetics, Prognosis, 3. Good health, 030220 oncology & carcinogenesis, Female, reproductive medicine, Adult, DLST, medicine.medical_specialty, 2-oxoglutarate dehydrogenase, Context (language use), Pheochromocytoma, Biology, Methylation, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, Biochemistry (medical), DNA Methylation, medicine.disease, 030104 developmental biology, Carcinogenesis, Acyltransferases, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd9442e7e4d9980ab71a5a04edf2d0eTest
https://hdl.handle.net/20.500.14017/3056fdf8-31c3-49e1-b6ce-60e59a956a64Test

المؤلفون: Johannes A. Rijken, Henricus P. M. Kunst, C. René Leemans, Michiel N. Kerstens, Eleonora P M Corssmit, Alberto M. Pereira, Peter H. Bisschop, Anouk N A van der Horst-Schrivers, Erik F. Hensen, Marieke F. van Dooren, Henri J L M Timmers, Jeroen C. Jansen, Koen M.A. Dreijerink, Karin Eijkelenkamp, Carli M. J. Tops, Frederik J. Hes, Nicolasine D. Niemeijer, Jean-Pierre Bayley, Anouk van Berkel

المساهمون: Clinical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Medical Genetics, Otolaryngology / Head & Neck Surgery, CCA - Cancer biology and immunology, APH - Quality of Care, Amsterdam Gastroenterology Endocrinology Metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Amsterdam Movement Sciences, Endocrinology

المصدر: European Journal of Endocrinology, 177(2), 115-125. Bioscientifica Ltd
European Journal of Endocrinology, 177, 115-125
European Journal of Endocrinology, 177(2), 115-125. BIOSCIENTIFICA LTD
European Journal of Endocrinology, 177(2), 115-125. BioScientifica Ltd.
European Journal of Endocrinology, 177(2), 115-125
European Journal of Endocrinology, 177, 2, pp. 115-125
Niemeijer, N D, Rijken, J A, Eijkelenkamp, K, Van Der Horst-Schrivers, A N A, Kerstens, M N, Tops, C M J, Van Berkel, A, Timmers, H J L M, Kunst, H P M, Leemans, C R, Bisschop, P H, Dreijerink, K M A, Van Dooren, M F, Bayley, J P, Pereira, A M, Jansen, J C, Hes, F J, Hensen, E F & Corssmit, E P M 2017, ' The phenotype of SDHB germline mutation carriers : A nationwide study ', European Journal of Endocrinology, vol. 177, no. 2, pp. 115-125 . https://doi.org/10.1530/EJE-17-0074Test
European journal of endocrinology / European Federation of Endocrine Societies, 177(2), 115-125. BioScientifica Ltd.

مصطلحات موضوعية: Male, PHEOCHROMOCYTOMA, SDHB, Adrenal Gland Neoplasms/diagnosis, Endocrinology, Diabetes and Metabolism, NETHERLANDS, CLINICAL-MANIFESTATIONS, medicine.disease_cause, Germ-Line Mutation/genetics, 0302 clinical medicine, Endocrinology, Renal cell carcinoma, Paraganglioma, Stromal tumor, Child, Medicine(all), Mutation, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], General Medicine, Middle Aged, Phenotype, PARAGANGLIOMA, 030220 oncology & carcinogenesis, Cohort studies, young adult, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Pheochromocytoma/diagnosis, Adult, medicine.medical_specialty, Heterozygote, Adolescent, GENETICS, 030209 endocrinology & metabolism, Netherlands/epidemiology, Pheochromocytoma, 03 medical and health sciences, Germline mutation, Succinate Dehydrogenase/genetics, Internal medicine, Paraganglioma/diagnosis, medicine, Humans, Aged, Retrospective Studies, business.industry, Retrospective cohort study, medicine.disease, Head and Neck Neoplasms/diagnosis, business, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c4950e19d5c9160824f74b98133b9aTest
https://doi.org/10.1530/EJE-17-0074Test

المؤلفون: Hein Putter, Bibian M. van Leeuwen, Anne M. Stiggelbout, Géke Soulier, Andel G. L. van der Mey, Peter Paul G. van Benthem, Jeroen C. Jansen, Martijn J. A. Malessy

المصدر: Otolaryngology-Head and Neck Surgery, 157(1), 92-98

مصطلحات موضوعية: Male, medicine.medical_specialty, PANQOL, Schwannoma, 03 medical and health sciences, 0302 clinical medicine, vestibular schwannoma, Quality of life, Surveys and Questionnaires, otorhinolaryngologic diseases, Humans, Medicine, 030223 otorhinolaryngology, Vestibular system, treatment, business.industry, Neuroma, Acoustic, medicine.disease, Cross-Sectional Studies, Treatment Outcome, Otorhinolaryngology, Treatment modality, Quality of Life, Physical therapy, Female, Surgery, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::118f133631f81d2b05827b34f59c7894Test
https://doi.org/10.1177/0194599817695800Test

المؤلفون: Berit M. Verbist, Lisa M. H. de Pont, Peter Paul G. van Benthem, Eleonora P M Corssmit, Berdine L. Heesterman, Jeroen C. Jansen, Andel G. L. van der Mey, Frederik J. Hes, Jean-Pierre Bayley

المساهمون: Medical Genetics

المصدر: European Journal of Human Genetics, 26(9), 1339-1347

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Logistic regression, Asymptomatic, Article, Germline, Paraganglioma, multifocal paragangliomas, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, Genetic Predisposition to Disease, SDHD germline variant carriers, Germ-Line Mutation, Genetics (clinical), Aged, Medicine(all), business.industry, Neoplasms, Second Primary, Middle Aged, medicine.disease, cranial nerve impairment, Succinate Dehydrogenase, 030104 developmental biology, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Cohort, Female, SDHD, metachronous paragangliomas, medicine.symptom, business, SDHD variant carriers, Clinical progression

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cafc7b27edf27e00e7e960c4bfb08ebdTest
https://doi.org/10.1038/s41431-018-0116-4Test

المؤلفون: Henricus P. M. Kunst, Mirjam M. de Jong, Bernadette M P van Nesselrooij, Frederik J. Hes, Henri J L M Timmers, Arjen R. Mensenkamp, Edward M Leter, Hans Morreau, Benno Küsters, Winand N.M. Dinjens, Anouk N A van de Horst-Schrivers, Karin van der Tuin, Jeroen C. Jansen, Eleonora P M Corssmit, Liesbeth Spruijt, Carli M. J. Tops, Rogier A. Oldenburg

المساهمون: Pathology, Clinical Genetics, Medical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS), MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: Journal of Clinical Endocrinology and Metabolism, 103, 438-445
Journal of Clinical Endocrinology and Metabolism, 103(2), 438-445. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 103, 2, pp. 438-445
Journal of Clinical Endocrinology and Metabolism, 103(2), 438. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 103(2), 438-445
Journal of Clinical Endocrinology & Metabolism, 103(2), 438-445. ENDOCRINE SOC
Journal of Clinical Endocrinology & Metabolism, 103(2), 438-445. Oxford University Press

مصطلحات موضوعية: Male, Oncology, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Adrenal Gland Neoplasms, SDHA, Penetrance, Paraganglioma/epidemiology, Biochemistry, Germline, 0302 clinical medicine, Endocrinology, Paraganglioma, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Medicine, Child, Netherlands, Medicine(all), Electron Transport Complex II, GASTROINTESTINAL STROMAL TUMORS, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pheochromocytoma/epidemiology, 030220 oncology & carcinogenesis, Electron Transport Complex II/genetics, young adult, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, GENES, Adolescent, Genetic counseling, SOCIETY, Netherlands/epidemiology, 030209 endocrinology & metabolism, Context (language use), Pheochromocytoma, Adrenal Gland Neoplasms/epidemiology, 03 medical and health sciences, Germline mutation, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Humans, Genetic Predisposition to Disease, HEAD, Germ-Line Mutation, Aged, Retrospective Studies, business.industry, MUTATIONS, Biochemistry (medical), medicine.disease, NECK PARAGANGLIOMAS, PRACTICE GUIDELINE, aged, 80 and over, business

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e637f8a4bc71e337012c3145db1d350eTest
http://hdl.handle.net/2066/184000Test

المؤلفون: Nicolasine D, Niemeijer, Johannes A, Rijken, Karin, Eijkelenkamp, Anouk N A, van der Horst-Schrivers, Michiel N, Kerstens, Carli M J, Tops, Anouk, van Berkel, Henri J L M, Timmers, Henricus P M, Kunst, C René, Leemans, Peter H, Bisschop, Koen M A, Dreijerink, Marieke F, van Dooren, Jean-Pierre, Bayley, Alberto M, Pereira, Jeroen C, Jansen, Frederik J, Hes, Erik F, Hensen, Eleonora P M, Corssmit

المصدر: European journal of endocrinology. 177(2)

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Adrenal Gland Neoplasms, Pheochromocytoma, Middle Aged, Cohort Studies, Paraganglioma, Succinate Dehydrogenase, Young Adult, Phenotype, Head and Neck Neoplasms, Humans, Female, Child, Germ-Line Mutation, Aged, Follow-Up Studies, Netherlands, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::221bd211775a709143040aed4e286819Test
https://pubmed.ncbi.nlm.nih.gov/28490599Test

المؤلفون: Jean-Pierre Bayley, A. G. L. van der Mey, Berit M. Verbist, Frederik J. Hes, Eleonora P M Corssmit, Jeroen C. Jansen, Berdine L. Heesterman

المساهمون: Clinical sciences

المصدر: Clinical Otolaryngology, 41(5), 571-578

مصطلحات موضوعية: Male, medicine.medical_specialty, Multiple tumours, Magnetic resonance angiography, Paraganglioma, 03 medical and health sciences, 0302 clinical medicine, Image Interpretation, Computer-Assisted, Temporal bone, Humans, Medicine, 030223 otorhinolaryngology, Head and neck, Medicine(all), Reproducibility, Measurement method, medicine.diagnostic_test, business.industry, Reproducibility of Results, Magnetic resonance imaging, Tumor Burden, Surgery, Paraganglioma/diagnostic imaging, Otorhinolaryngology, Method comparison, Head and Neck Neoplasms, Head and Neck Neoplasms/diagnostic imaging, Female, business, Nuclear medicine, Magnetic Resonance Angiography, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ff46eaacab6469ac203f918f3a0a25Test
http://hdl.handle.net/1887/112388Test

المؤلفون: L. T. van Hulsteijn, Eleonora P M Corssmit, A.C. den Dulk, Jeroen C. Jansen, Jean-Pierre Bayley, Frederik J. Hes

المساهمون: Clinical sciences, Medical Genetics, Neurosurgery

المصدر: Clinical Endocrinology, 79(6), 824-831

مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Neoplastic Syndromes, Hereditary/enzymology, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, Pheochromocytoma, Gene mutation, Paraganglioma, Endocrinology, Succinate Dehydrogenase/genetics, Neoplastic Syndromes, Hereditary, Internal medicine, medicine, Adrenal Gland Neoplasms/genetics, Humans, Malignant Paraganglioma, Genetic Predisposition to Disease, Genetic Association Studies, Aged, Netherlands, Retrospective Studies, Hereditary Paraganglioma, business.industry, Head and Neck Neoplasms/genetics, Retrospective cohort study, Middle Aged, Founder Effect, Succinate Dehydrogenase, Pheochromocytoma/genetics, Head and Neck Neoplasms, Mutation (genetic algorithm), Cohort studies, Paraganglioma/enzymology, young adult, Female, SDHD, mutation, business, Founder effect, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36a4456ab1d4ecbf8f7c2e5a5cb7f0b4Test
https://doi.org/10.1111/cen.12223Test

المؤلفون: Jan W. A. Smit, N. van Duinen, L. Smid, Jeroen C. Jansen, L. T. van Hulsteijn, J.G. van Dijk, Maarten K. Ninaber, Johannes A. Romijn, Bas Havekes, Gert Jan Lammers, Eleonora P M Corssmit, K.W. van Kralingen, Roland D. Thijs

المساهمون: Interne Geneeskunde, RS: NUTRIM - R1 - Metabolic Syndrome, Amsterdam Gastroenterology Endocrinology Metabolism, General Internal Medicine

المصدر: Sleep and Breathing, 18(1), 103-109
Sleep and Breathing, 18(1), 103-109. Springer Verlag
Sleep & breathing = Schlaf & Atmung, 18(1), 103-109. Springer Verlag
Sleep and Breathing, 18, 1, pp. 103-9
Sleep and Breathing, 18, 103-9

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Chemoreceptor, Neurology, Polysomnography, Paragangliomas, Peripheral chemoreceptors, Carotid Body Tumor, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Neoplasms, Multiple Primary, Risk Factors, Reflex, medicine, Humans, Carotid body tumors, Peripheral chemoreflex drive, Sleep-disordered breathing, Aged, Sleep Apnea, Obstructive, business.industry, Sleep apnea, Middle Aged, medicine.disease, Chemoreceptor Cells, Peripheral, Oxygen, Otorhinolaryngology, Control of respiration, Anesthesia, Breathing, Female, Neurology (clinical), business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e1123cb695b6672f271946fc8a9d602Test
https://doi.org/10.1007/s11325-013-0855-yTest