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1دورية أكاديمية
المؤلفون: Johannes A. Rijken, Leonie T. van Hulsteijn, Olaf M. Dekkers, Nicolasine D. Niemeijer, C. René Leemans, Karin Eijkelenkamp, Anouk N.A. van der Horst-Schrivers, Michiel N. Kerstens, Anouk van Berkel, Henri J.L.M. Timmers, Henricus P.M. Kunst, Peter H.L.T. Bisschop, Koen M.A. Dreijerink, Marieke F. van Dooren, Frederik J. Hes, Jeroen C. Jansen, Eleonora P.M. Corssmit, Erik F. Hensen
المصدر: Cancers, Vol 11, Iss 1, p 103 (2019)
مصطلحات موضوعية: SDHB, SDHD, mortality, paraganglioma, pheochromocytoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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المؤلفون: Karin van der Tuin, Eleonora P M Corssmit, Birke Bausch, Erik F. Hensen, Jeroen C. Jansen, Hartmut P. H. Neumann, Peter Devilee, Jean-Pierre Bayley
المساهمون: VU University medical center
المصدر: Bayley, J P, Bausch, B, Jansen, J C, Hensen, E F, van der Tuin, K, Corssmit, E P, Devilee, P & Neumann, H P 2023, ' SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma ', Journal of Medical Genetics, vol. 60, no. 1, pp. 25-32 . https://doi.org/10.1136/jmedgenet-2020-107656Test
Journal of Medical Genetics, 60(1), 25-32. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Geneticsمصطلحات موضوعية: Oncology, medicine.medical_specialty, phenotype, SDHB, Variant type, business.industry, genotype, adrenal gland diseases, medicine.disease, Malignancy, Pheochromocytoma, Paraganglioma, Internal medicine, Genetics, medicine, Missense mutation, SDHD, endocrine gland neoplasms, Age of onset, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e13f562bc6729aeaed3f77a1fed026Test
http://www.scopus.com/inward/record.url?scp=85144637045&partnerID=8YFLogxKTest -
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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 GROUPمصطلحات 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 -
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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 SOCمصطلحات 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 -
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المؤلفون: Charles R. Leemans, Johannes A. Rijken, Peter H. Bisschop, N.D. Niemeijer, Eleonora P M Corssmit, A. van Berkel, A. N. A. van der Horst-Schrivers, Marianne A. Jonker, Erik F. Hensen, Jeroen C. Jansen, Frederik J. Hes, Michiel N. Kerstens, Koen M.A. Dreijerink, Henri J L M Timmers, M. F. van Dooren, Henricus P. M. Kunst, Karin Eijkelenkamp
المصدر: Clinical Genetics. 93:60-66
مصطلحات موضوعية: 0301 basic medicine, Oncology, Genetics, medicine.medical_specialty, Hereditary Paraganglioma, SDHB, business.industry, medicine.disease, Penetrance, Pheochromocytoma, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, Paraganglioma, 030220 oncology & carcinogenesis, Internal medicine, Mutation (genetic algorithm), medicine, Medical genetics, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1c7792d432a2d0a81fe3133e46b4cab4Test
https://doi.org/10.1111/cge.13055Test -
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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 -
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المؤلفون: Esther Korpershoek, Eleonora P M Corssmit, Cees J. Cornelisse, Henri J L M Timmers, Jeroen C. Jansen, Adrian Bateman, Erik F. Hensen, Ekaterina S. Jordanova, Jean-Pierre Bayley, Peter Devilee, Diana Eccles, Henricus P. M. Kunst, Attje S. Hoekstra, Frederik J. Hes, Anouk N A van der Horst-Schrivers, Judith V.M.G. Bovée
المساهمون: Otolaryngology / Head & Neck Surgery, APH - Quality of Care, Obstetrics and gynaecology, CCA - Cancer biology and immunology, Amsterdam Reproduction & Development (AR&D), Pathology, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Medical Genetics
المصدر: Oncotarget, 8(9), 14525-14536. Impact Journals
Oncotarget, 8(9), 14525-14536. Impact Journals LLC
Oncotarget, 8, 14525-14536
Oncotarget
Hoekstra, A S, Hensen, E F, Jordanova, E S, Korpershoek, E, van der Horst-Schrivers, A N A, Cornelisse, C, Corssmit, E P M, Hes, F J, Jansen, J C, Kunst, H P M, Timmers, H J L M, Bateman, A, Eccles, D, Bovee, J V M G, Devilee, P & Bayley, J-P 2017, ' Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas ', Oncotarget, vol. 8, no. 9, pp. 14525-14536 . https://doi.org/10.18632/oncotarget.14649Test
Oncotarget, 8, 9, pp. 14525-14536
Oncotarget, 8(9), 14525-14536مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cellular pathology, Pathology, SDHB, Copy number analysis, SDHA, Chromosomes, Human, Pair 11/genetics, Germ-Line Mutation/genetics, Mitochondrial Proteins, Von Hippel-Lindau, paraganglioma, 03 medical and health sciences, 0302 clinical medicine, Succinate Dehydrogenase/genetics, Paraganglioma, medicine, Humans, Alleles, Germ-Line Mutation, Medicine(all), Gynecology, Paraganglioma/genetics, business.industry, Chromosomes, Human, Pair 11, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Autosomal dominant trait, succinate dehydrogenase, medicine.disease, Von Hippel-Lindau Tumor Suppressor Protein/genetics, pheochromocytoma, 030104 developmental biology, Oncology, Von Hippel-Lindau Tumor Suppressor Protein, Mitochondrial Proteins/genetics, 030220 oncology & carcinogenesis, Medical genetics, Female, loss of heterozygosity, SDHD, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Research Paper
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5923c85f5043a05855990265428c80e3Test
https://doi.org/10.18632/oncotarget.14649Test -
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المؤلفون: Johannes A, Rijken, Leonie T, van Hulsteijn, Olaf M, Dekkers, Nicolasine D, Niemeijer, C René, Leemans, Karin, Eijkelenkamp, Anouk N A, van der Horst-Schrivers, Michiel N, Kerstens, Anouk, van Berkel, Henri J L M, Timmers, Henricus P M, Kunst, Peter H L T, Bisschop, Koen M A, Dreijerink, Marieke F, van Dooren, Frederik J, Hes, Jeroen C, Jansen, Eleonora P M, Corssmit, Erik F, Hensen
المصدر: Cancers
مصطلحات موضوعية: paraganglioma, SDHB, mortality, pheochromocytoma, Article, SDHD
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e09cded633b6162364debd8ad4c081c0Test
https://pubmed.ncbi.nlm.nih.gov/30658386Test -
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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 -
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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 Pressمصطلحات 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