المؤلفون: Wasita Warachit, Natnicha Houngngam, Thiti Snabboon

المصدر: Acta Médica Portuguesa, Vol 34, Iss 2 (2021)

مصطلحات موضوعية: Carotid Body Tumor, Paraganglioma, Succinate Dehydrogenase/genetics, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/12681; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

URL الوصول: https://doaj.org/article/4f7bbdc931d8427496dbcbd23606722f

المؤلفون: Amar, L., Pacak, K., Steichen, O., Akker, S.A., Aylwin, SJB, Baudin, E., Buffet, A., Burnichon, N., Clifton-Bligh, R.J., Dahia, PLM, Fassnacht, M., Grossman, A.B., Herman, P., Hicks, R.J., Januszewicz, A., Jimenez, C., Kunst, HPM, Lewis, D., Mannelli, M., Naruse, M., Robledo, M., Taïeb, D., Taylor, D.R., Timmers, HJLM, Treglia, G., Tufton, N., Young, W.F., Lenders, JWM, Gimenez-Roqueplo, A.P., Lussey-Lepoutre, C.

المصدر: Nature reviews. Endocrinology, vol. 17, no. 7, pp. 435-444

مصطلحات موضوعية: Adult, Aged, Algorithms, Asymptomatic Diseases, Child, Consensus, Genetic Carrier Screening/methods, Genetic Carrier Screening/standards, Genetic Testing/standards, Germ-Line Mutation, Heterozygote, Humans, Internationality, Mass Screening/methods, Mass Screening/standards, Monitoring, Physiologic/methods, Monitoring, Physiologic/standards, Succinate Dehydrogenase/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::0228158e82fadd7a9cb4ebb609c50cf9
https://serval.unil.ch/notice/serval:BIB_5A5B625D1D0B

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-17-0074
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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c4950e19d5c9160824f74b98133b9a
https://doi.org/10.1530/EJE-17-0074

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.14649
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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5923c85f5043a05855990265428c80e3
https://doi.org/10.18632/oncotarget.14649

المؤلفون: Natnicha Houngngam, Thiti Snabboon, Wasita Warachit

المصدر: Acta Médica Portuguesa, Vol 34, Iss 2, Pp 143-143 (2021)

مصطلحات موضوعية: Adult, lcsh:R5-920, medicine.medical_specialty, business.industry, lcsh:R, lcsh:Medicine, General Medicine, Carotid Body Tumor, medicine.disease, Carotid Body Paraganglioma, succinate dehydrogenase/genetics, Paraganglioma, Succinate Dehydrogenase, medicine, Humans, Female, Radiology, lcsh:Medicine (General), Tomography, X-Ray Computed, business, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65981d946338442a3cb76b4a2e295521
https://doi.org/10.20344/amp.12681

المؤلفون: Rijken, J.A., Niemeijer, N.D., Jonker, M.A., Eijkelenkamp, K., Jansen, J.C., Berkel, A. van, Timmers, H.J.L.M., Kunst, H.P.M., Bisschop, P.H.L.T., Kerstens, M.N., Dreijerink, K.M.A., Dooren, M.F. van, Horst-Schrivers, A.N.A. van der, Hes, F.J., Leemans, C.R., Corssmit, E.P.M., Hensen, E.F.

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, AMS - Amsterdam Movement Sciences, CCA - Cancer biology and immunology, Otolaryngology / Head & Neck Surgery, Epidemiology and Data Science, APH - Quality of Care, Amsterdam Gastroenterology Endocrinology Metabolism, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Erasmus MC other, Clinical Genetics, Faculty of Physical Education and Physical Therapy, Clinical sciences, Faculty of Law and Criminology

المصدر: Rijken, J A, Niemeijer, N D, Jonker, M A, Eijkelenkamp, K, Jansen, J C, van Berkel, A, Timmers, H J L M, Kunst, H P M, Bisschop, P H L T, Kerstens, M N, Dreijerink, K M A, van Dooren, M F, van der Horst-Schrivers, A N A, Hes, F J, Leemans, C R, Corssmit, E P M & Hensen, E F 2018, ' The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers ', Clinical Genetics, vol. 93, no. 1, pp. 60-66 . https://doi.org/10.1111/cge.13055
Clinical genetics, 93(1), 60-66. Wiley-Blackwell
Clinical Genetics, 93(1), 60-66. Wiley-Blackwell
Clinical Genetics, 93, 1, pp. 60-66
Clinical Genetics, 93(1), 60-66. Wiley
Clinical Genetics, 93(1), 60-66
Clinical Genetics, 93(1), 60-66. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 93, 60-66

مصطلحات موضوعية: Adult, Male, Genotype, INHERITANCE, paraganglioma, Succinate Dehydrogenase/genetics, Adrenal Gland Neoplasms/genetics, Humans, HEAD, penetrance, Germ-Line Mutation, Aged, Netherlands, Retrospective Studies, Medicine(all), Paraganglioma/genetics, NECK PARAGANGLIOMA, DELETION, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Middle Aged, SDHB, pheochromocytoma, FAMILY, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Pheochromocytoma/genetics, Phenotype, Female, aged, 80 and over, GLOMUS TUMORS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e5aab2f6e6a4a3f920797de357a7e77
https://hdl.handle.net/1887/94890

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36a4456ab1d4ecbf8f7c2e5a5cb7f0b4
https://doi.org/10.1111/cen.12223

المؤلفون: Frederik J. Hes, Attje S. Hoekstra, Willem E. Corver, Inge H. Briaire-de Bruijn, Hans Morreau, Reza M. Seifar, Peter Devilee, Ruben D. Addie, Judith V.M.G. Bovée, Cor Ras, Jean-Pierre Bayley, Claudia A. L. Ruivenkamp, Jeroen C. Jansen, Eleonora P M Corssmit

المساهمون: Medical Genetics

المصدر: Human Molecular Genetics, 25(17), 3715-3728

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Organic Cation Transport Proteins, Mutant, Succinic Acid, Biology, Chromosomes, Human, Pair 11/genetics, medicine.disease_cause, Molecular Imprinting, Paraganglioma, 03 medical and health sciences, 0302 clinical medicine, Succinate Dehydrogenase/genetics, Cell Line, Tumor, Genetics, Gene Knockdown Techniques, medicine, Humans, Cyclin-Dependent Kinase Inhibitor p57/metabolism, Molecular Biology, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), Cell Proliferation, Medicine(all), Gene knockdown, Mutation, Paraganglioma/genetics, Models, Genetic, Chromosomes, Human, Pair 11, General Medicine, medicine.disease, Succinic Acid/metabolism, Gene Expression Regulation, Neoplastic, Succinate Dehydrogenase, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, Female, SDHD, Organic Cation Transport Proteins/metabolism, Genomic imprinting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e585f46dd02142c6f43a45c258596900
http://hdl.handle.net/1887/114063

المؤلفون: Olaf M. Dekkers, Frederik J. Hes, Berdine L. Heesterman, Leonie T. van Hulsteijn, Jeroen C. Jansen, Eleonora P M Corssmit, Jean-Pierre Bayley

المساهمون: Clinical sciences

المصدر: European Journal of Human Genetics, 23(12), 1713-1716

مصطلحات موضوعية: Adult, Male, Heterozygote, Population, Biology, Article, Paraganglioma, Germline mutation, Succinate Dehydrogenase/genetics, Genetics, medicine, Humans, education, Genetics (clinical), Germ-Line Mutation, Brain Neoplasms/genetics, Medicine(all), education.field_of_study, Paraganglioma/genetics, Brain Neoplasms, Case-control study, Heterozygote advantage, Middle Aged, medicine.disease, Succinate Dehydrogenase, Case-Control Studies, Female, SDHD

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db065f6734a6cd13d173bd574c01c13
http://hdl.handle.net/1887/101302

المؤلفون: Jeroen C. Jansen, Nicolasine D. Niemeijer, Frederik J. Hes, Hans Morreau, Thomas G. Papathomas, Ronald R. de Krijger, Esther Korpershoek, Jean-Pierre Bayley, Eleonora P M Corssmit, Winand N.M. Dinjens, Lindsey Oudijk

المساهمون: Clinical sciences, Internal Medicine, Pathology, Erasmus MC other

المصدر: Journal of Clinical Endocrinology and Metabolism, 100(10), E1386-E1393. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 100(10), E1386-E1393
Journal of Clinical Endocrinology and Metabolism, 100(10), E1386. The Endocrine Society

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, SDHA, Context (language use), macromolecular substances, Pituitary neoplasm, Neuroendocrine tumors, Biology, medical, Biochemistry, Pheochromocytoma, Endocrinology, SDG 3 - Good Health and Well-being, Succinate Dehydrogenase/genetics, Paraganglioma, Internal medicine, medicine, Humans, Pituitary Neoplasms, Aged, Retrospective Studies, Biochemistry, medical, Medicine(all), Biochemistry (medical), Middle Aged, Neuroendocrine Tumors/genetics, medicine.disease, Pancreatic Neoplasms/genetics, Pituitary Neoplasms/genetics, Pedigree, Diabetes and Metabolism, Pancreatic Neoplasms, Succinate Dehydrogenase, Neuroendocrine Tumors, Female, loss of heterozygosity, SDHD, mutation

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de440fea29614a26f474aeb20da7cf68
https://hdl.handle.net/20.500.14017/52a949a6-24c2-441f-b092-d46049b678f2