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1دورية أكاديمية
المؤلفون: Jean-Pierre Bayley, Heggert G Rebel, Kimberly Scheurwater, Dominique Duesman, Juan Zhang, Francesca Schiavi, Esther Korpershoek, Jeroen C Jansen, Abbey Schepers, Peter Devilee
المصدر: PLoS ONE, Vol 17, Iss 9, p e0274478 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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2دورية أكاديمية
المؤلفون: Jean-Pierre Bayley, Peter Devilee
المصدر: Genes, Vol 13, Iss 6, p 1025 (2022)
مصطلحات موضوعية: head and neck paraganglioma, pheochromocytoma, succinate dehydrogenase, reactive oxygen species, neuroendocrine tumor, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Jean-Pierre Bayley, Ivonne van Minderhout, Pancras C W Hogendoorn, Cees J Cornelisse, Annemieke van der Wal, Frans A Prins, Luc Teppema, Albert Dahan, Peter Devilee, Peter E M Taschner
المصدر: PLoS ONE, Vol 4, Iss 11, p e7987 (2009)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC2776493?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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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: Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher
المساهمون: Institut Català de la Salut, [Ben Aim L] Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. [Maher ER] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. [Cascon A] Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. [Barlier A] Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. [Giraud S] Department of Genetics, Hospices Civils de Lyon, Bron, France. [Ercolino T] Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. [Toledo RA] CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Maher, Eamonn R [0000-0002-6226-6918], Pigny, Pascal [0000-0003-3926-4487], Bayley, Jean Pierre [0000-0002-8288-0050], Burnichon, Nelly [0000-0001-7972-5845], Apollo - University of Cambridge Repository
المصدر: Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Geneticsمصطلحات موضوعية: medicine.medical_specialty, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma [DISEASES], databases, SDHB, Adrenal Gland Neoplasms, human genetics, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma [DISEASES], Context (language use), adrenal gland diseases, Pheochromocytoma, computer.software_genre, Glàndules suprarenals - Malalties - Aspectes genètics, genetic testing, Paraganglioma, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma [ENFERMEDADES], Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Genetics, medicine, Humans, Cancer genetics, Genetics (clinical), Germ-Line Mutation, Genetic testing, Hereditary Paraganglioma, Database, medicine.diagnostic_test, neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales [ENFERMEDADES], business.industry, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma [ENFERMEDADES], Cromosomes humans - Anomalies - Diagnòstic, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], medicine.disease, Human genetics, Succinate Dehydrogenase, genetic variation, Medical genetics, genetic, Leiden Open Variation Database, business, Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms [DISEASES], computer, Tumors neuroendocrins - Aspectes genètics
وصف الملف: application/pdf; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864Test
https://hdl.handle.net/11351/9696Test -
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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: Laurene, Ben Aim, Eamonn R, Maher, Alberto, Cascon, Anne, Barlier, Sophie, Giraud, Tonino, Ercolino, Pascal, Pigny, Roderick J, Clifton-Bligh, Delphine, Mirebeau-Prunier, Amira, Mohamed, Judith, Favier, Anne-Paule, Gimenez-Roqueplo, Francesca, Schiavi, Rodrigo A, Toledo, Patricia L, Dahia, Mercedes, Robledo, Jean Pierre, Bayley, Nelly, Burnichon
المصدر: Journal of medical genetics. 59(8)
مصطلحات موضوعية: Paraganglioma, Succinate Dehydrogenase, Adrenal Gland Neoplasms, Humans, Genetic Testing, Pheochromocytoma, Germ-Line Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6d919922d0db87f10b9c47ca9a99899bTest
https://pubmed.ncbi.nlm.nih.gov/34452955Test -
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المؤلفون: Jean-Pierre Bayley, Peter Devilee
المصدر: Endocrine-Related Cancer, 27(12), R433-R450. BIOSCIENTIFICA LTD
مصطلحات موضوعية: 0301 basic medicine, MTT, Cancer Research, Pheochromocytoma Cell Lines, Computer science, Endocrinology, Diabetes and Metabolism, Computational biology, cell lines, imCC, Mice, 03 medical and health sciences, paraganglioma, models, SV40, 0302 clinical medicine, Endocrinology, Basic research, Paraganglioma, Cell Line, Tumor, medicine, Animals, Humans, Induced pluripotent stem cell, Disease mechanisms, PC12, medicine.disease, succinate dehydrogenase, Xenograft Model Antitumor Assays, pheochromocytoma, Rats, Disease Models, Animal, 030104 developmental biology, xenografts, Oncology, MPC, 030220 oncology & carcinogenesis, hPheo1
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f75c86fddad67064f5cdb24bcf562c79Test
https://hdl.handle.net/1887/3184432Test -
10دورية أكاديمية
المؤلفون: Jean Pierre Bayley
المساهمون: Birke Bausch
العلاقة: https://biblio.vub.ac.be/vubir/variant-type-is-associated-with-disease-characteristics-in-sdhb-sdhc-and-sdhdlinked-phaeochromocytomaparagangliomaTest(0dab8ac5-00a8-4526-a6c9-b9a70d164ad5).html
الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106214Test
https://biblio.vub.ac.be/vubir/variant-type-is-associated-with-disease-characteristics-in-sdhb-sdhc-and-sdhdlinked-phaeochromocytomaparagangliomaTest(0dab8ac5-00a8-4526-a6c9-b9a70d164ad5).html