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Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing
(Sociedade Brasileira de Endocrinologia e Metabologia, 2007-12-01)
Dois pacientes índices da família analisada neste estudo foram submetidos a adrenalectomia bilateral devido a feocromocitoma. Foi, então, realizado o estudo genético dos pacientes e de sete parentes de primeiro grau. Os ...
Feocromocitoma: nuevas perspectivas en diagnóstico y seguimientoPheochromocytoma: new insights in diagnosis and monitoring
(Asociación de Profesionales del Hospital de Niños Ricardo Gutiérrez, 2018-08)
La hipertensión arterial es una patología de menor frecuencia en pediatría que en la edad adulta, sin embargo existen diversas etiologías que la pueden originar y es fundamental realizar diagnóstico certero de las mismas. ...
Pheochromocytoma associatedwith pregnancy: unexpected favourable outcome in patients diagnosed after delivery
(Lippincott Williams, 2014-07)
Objective : The objective of this study is to present the clinical findings and outcome of a large cohort of pregnant women with pheochromocytoma (PHEO) with the aim to contribute to the better recognition, detection and ...
Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing
(Sociedade Brasileira de Endocrinologia e Metabologia, 2007-12-01)
Dois pacientes índices da família analisada neste estudo foram submetidos a adrenalectomia bilateral devido a feocromocitoma. Foi, então, realizado o estudo genético dos pacientes e de sete parentes de primeiro grau. Os ...
Multiple endocrine neoplasia type 2
(2010)
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer syndrome with major components of medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. The disease is caused by germline ...
Genetics informs precision practice in the diagnosis and management of pheochromocytoma
(BioScientifica Ltd., 2018)
© 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 ...
Multiple paragangliomas associated to a SDHB gene mutation. report of one case Paragangliomas múltiples asociados a mutación del gen SDHB. caso clínico
(2011)
Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations ...
Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing
(Sociedade Brasileira de Endocrinologia e Metabologia, 2014)
Overexpression of the Insulin-like growth factor 1 receptor (IGF-1R) is associated with malignancy in familial pheochromocytomas and paragangliomas
(Wiley, 2013-03)
CONTEXT: Pheochromocytomas and paragangliomas (pheo/pgl) are neuroendocrine tumours derived from chromaffin cells. Although mostly benign, up to 26% of pheo/pgl will undergo malignant transformation. Reliable histological ...
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
(NATURE PUBLISHING GROUP, 2010)
Pheochromocytomas, which are catecholamine-secreting tumors of neural crest origin, are frequently hereditary(1). However, the molecular basis of the majority of these tumors is unknown(2). We identified the transmembrane-encoding ...