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Author | dc.contributor.author | Neumann, Hartmut P. | |
Author | dc.contributor.author | Young, William F. | |
Author | dc.contributor.author | Krauss, Tobias | |
Author | dc.contributor.author | Bayley, Jean Pierre | |
Author | dc.contributor.author | Schiavi, Francesca | |
Author | dc.contributor.author | Opocher, Giuseppe | |
Author | dc.contributor.author | Boedeker, Carsten C. | |
Author | dc.contributor.author | Tirosh, Amit | |
Author | dc.contributor.author | Castinetti, Frederic | |
Author | dc.contributor.author | Ruf, Juri | |
Author | dc.contributor.author | Beltsevich, Dmitry | |
Author | dc.contributor.author | Walz, Martin | |
Author | dc.contributor.author | Groeben, Harald Thomas | |
Author | dc.contributor.author | Von Dobschuetz, Ernst | |
Author | dc.contributor.author | Gim | |
Admission date | dc.date.accessioned | 2019-03-18T12:03:16Z | |
Available date | dc.date.available | 2019-03-18T12:03:16Z | |
Publication date | dc.date.issued | 2018 | |
Cita de ítem | dc.identifier.citation | Endocrine-Related Cancer, Volumen 25, Issue 8, 2018, Pages T201-T219 | |
Identifier | dc.identifier.issn | 14796821 | |
Identifier | dc.identifier.issn | 13510088 | |
Identifier | dc.identifier.other | 10.1530/ERC-18-0085 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/167575 | |
Abstract | dc.description.abstract | © 2018 Society for Endocrinology Published by Bioscientifica Ltd. Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with >35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes. We now have the tools to diagnose patients with genetic pheochromocytoma, identify germline mutation carriers and to offer gene-informed medical management including enhanced surveillance and | |
Lenguage | dc.language.iso | en | |
Publisher | dc.publisher | BioScientifica Ltd. | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | Endocrine-Related Cancer | |
Keywords | dc.subject | Brown adipose tissue | |
Keywords | dc.subject | Lipid metabolism | |
Keywords | dc.subject | Oxidative stress | |
Keywords | dc.subject | White adipose tissue | |
Título | dc.title | Genetics informs precision practice in the diagnosis and management of pheochromocytoma | |
Document type | dc.type | Artículo de revista | |
dcterms.accessRights | dcterms.accessRights | Acceso Abierto | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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