Výsledky vyhledávání - "Pheochromocytoma/genetics"

Long‐term follow‐up of RET Y791F carriers in Denmark 1994‐2017: A National Cohort Study

Autor: Mette Gaustadnes, Maria Rossing, Finn Noe Bennedbæk, Morten Poulsen, Peter Darling, Marie Juul Ornstrup, Sanne Høxbroe Michaelsen, Jes Sloth Mathiesen, Peter Vestergaard

Publikováno v: Høxbroe Michaelsen, S, Ornstrup, M J, Poulsen, M M, Bennedbaek, F N, Gaustadnes, M, Rossing, M, Darling, P, Vestergaard, P & Mathiesen, J S 2019, ' Long-term follow-up of RET Y791F carriers in Denmark 1994-2017 : A National Cohort Study ', Journal of Surgical Oncology, vol. 119, no. 6, pp. 687-693 . https://doi.org/10.1002/jso.25371
Høxbroe Michaelsen, S, Ornstrup, M J, Poulsen, M M, Bennedbæk, F N, Gaustadnes, M, Rossing, M, Darling, P, Vestergaard, P & Mathiesen, J S 2019, ' Long-term follow-up of RET Y791F carriers in Denmark 1994-2017 : A National Cohort Study ', Journal of Surgical Oncology, vol. 119, no. 6, pp. 687-693 . https://doi.org/10.1002/jso.25371

BACKGROUND AND OBJECTIVES: Recently, a comprehensive study presented evidence that a long-disputed REarranged during Transfection (RET) variant, RET Y791F, should be classified as nonpathogenic. In spite of this, several subsequently published papers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52766e6bdc2f1b1b89e6432634d9a7ec
https://doi.org/10.1002/jso.25371

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The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers

Autor: 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.

Publikováno v: 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

Item does not contain fulltext Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent d

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

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No difference in phenotype of the main DutchSDHDfounder mutations

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

Publikováno v: Clinical Endocrinology, 79(6), 824-831

SummaryObjective SDHD mutations predispose carriers to hereditary paraganglioma syndrome. The objective of this study was to assess the genotype–phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluate potential differen

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

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Paraganglioma and pheochromocytoma upon maternal transmission of SDHDmutations

Autor: Attje S. Hoekstra, Jeroen C. Jansen, Rogier A. Oldenburg, Peter Devilee, Jean-Pierre Bayley, Esther Korpershoek, Jennifer Nuk, Eleonora P M Corssmit, Ronald R. de Krijger, Winand N.M. Dinjens, Conny A. van der Meer, Frederik J. Hes, Barbara Mcgillivray

Publikováno v: BMC Medical Genetics, 15
BMC Medical Genetics, 15. BioMed Central Ltd.
BMC Medical Genetics

Background: The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20062f8ec6370d54e46b9afd3057d840
https://doi.org/10.1186/s12881-014-0111-8

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Análise do gene CDKN1B/p27kip1 em pacientes com neoplasia endócrina múltipla tipo 2

Autor: Sekiya, Tomoko

INTRODUÇÃO: Na Neoplasia Endócrina Múltipla tipo 2 (NEM2), o desenvolvimento do Carcinoma Medular de Tireoide (CMT), Feocromocitoma (FEO) e Hiperparatireoidismo primário (HPT) está associado à mutações germinativas ativadoras no proto-oncoge

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/5/5135/tde-26022014-112355/

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Dissertation/ Thesis

Análise do gene CDKN1B/p27kip1 em pacientes com neoplasia endócrina múltipla tipo 2

Autor: Tomoko Sekiya

Publikováno v: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/5/5135/tde-26022014-112355/

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MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Autor: Patricia L. M. Dahia, Maurizio Castellano, Nicole Reisch, Carli M. J. Tops, N. Abermil, Marta Barontini, Graeme Eisenhofer, Sandra Bernaldo de Quirós, Salud Borrego, Álvaro Gómez-Graña, Nelly Burnichon, M. Giacchè, Mercedes Robledo, Emiliano Honrado, Giuseppe Opocher, Francesca Schiavi, Xavier Girerd, Elena Rapizzi, Lucía Inglada-Pérez, Esther Korpershoek, Henri J L M Timmers, Massimo Mannelli, Encarna B. Gomez-Garcia, Elisa Taschin, María-Dolores Chiara, Sara Bobisse, Alberto Cascón, Peggy Pierre, Carlos Suárez, Alexander P.A. Stegmann, Arjen R. Mensenkamp, Felix Beuschlein, Luigi Mori, Iñaki Comino-Méndez, Marinus J. Blok, Laurence Amar, Arnaud Murat, Macarena Ruiz-Ferrer, Ronald R. de Krijger, F Schillo, Frederik J. Hes, Karel Pacak, Nicole Paes Morales, Tonino Ercolino, Jacques W.M. Lenders, Rocío Letón, Miguel Urioste, Eleonora P M Corssmit, Isabelle Guilhem, Nan Qin, Anne-Paule Gimenez-Roqueplo, Giovanna Roncador, Pierre-François Plouin, Tamara Prodanov, Yves-Jean Bignon, Victoria M. Raymond, Jérôme Bertherat, Miguel Quesada-Charneco, Anna Merlo, Aguirre A. de Cubas, Philippe Chanson

Publikováno v: Clinical Cancer Research
Clinical Cancer Research, 2012, 18 (10), pp.2828-37. ⟨10.1158/1078-0432.CCR-12-0160⟩
Clinical Cancer Research, 18(10), 2828-2837. American Association for Cancer Research Inc.
Clinical Cancer Research, American Association for Cancer Research, 2012, 18 (10), pp.2828-37. ⟨10.1158/1078-0432.CCR-12-0160⟩
Clinical Cancer Research, 18, 10, pp. 2828-37
Digital.CSIC. Repositorio Institucional del CSIC
instname
Clinical Cancer Research, 18(10), 2828-2837
Clinical Cancer Research, American Association for Cancer Research, 2012, 18 (10), pp.2828-37. 〈10.1158/1078-0432.CCR-12-0160〉
Clinical Cancer Research; Vol 18
Clinical Cancer Research, 18, 2828-37

11 pages, 2 figures, 2 tables.-- Burnichón, Nelly et al.
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::741d2c9a7a3e90b407fce3123fe7e415
http://hdl.handle.net/11379/148720

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Incidentally discovered adrenal tumours, adrenal metastases and pheochromocytomas - Clinical and epidemiological aspects

Autor: Muth, Andreas

With increasing use of high resolution radiological imaging incidentally discovered adrenal tumours (adrenal incidentalomas, AI) have become a common clinical problem. The aim of work-up and follow-up of patients with AI is to detect malignant (prima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1149::1f329818aa88acd9d7693f779f57b531

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Catecholamine Metabolism in Paraganglioma and Pheochromocytoma: Similar Tumors in Different Sites?

Autor: Sarah Sigrist, Oliver Tschopp, Maurice Matter, Michael Brändle, Karim Abid, Stefan Fischli, Frédéric Triponez, Christoph Henzen, Eric Grouzmann, Tilman Drechser, Henryk Zulewski, Stefan Bilz

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0125426 (2015)
PLoS ONE
Plos One, vol. 10, no. 5, pp. e0125426
PLOS ONE, Vol. 10, No 5 (2015) P. e0125426

Pheochromocytoma (PHEO) and paraganglioma (PGL) are catecholamine-producing neuroendocrine tumors that arise respectively inside or outside the adrenal medulla. Several reports have shown that adrenal glucocorticoids (GC) play an important regulatory

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714d9c9ef068d2d605021de6ca13939a
https://doi.org/10.1371/journal.pone.0125426

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