نتائج البحث - "Jeroen C. Jansen"

1

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma

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

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

2

Germline DLST variants promote epigenetic modifications in pheochromocytoma-paraganglioma

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

3

The phenotype of SDHB germline mutation carriers

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

4

Quality of Life in 807 Patients with Vestibular Schwannoma: Comparing Treatment Modalities

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

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

5

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

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), 14525-14536

مصطلحات 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

6

Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

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

7

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study

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