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Mostrando ítems 11-20 de 22
Síndrome de paraganglioma familial: análise clinico-molecular de uma família mineira
(Universidade Federal de Minas GeraisUFMG, 2014-08-11)
Pheocromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia, sympathetic or parasympathetic, respectively. These tumors ...
Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
(AMER MEDICAL ASSOC, 2010)
Context Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest-derived neoplasms. We recently identified germline mutations of the novel transmembrane-encoding gene FP/TMEM127 in familial and ...
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. ...
Long-term prognosis of patients with pediatric pheochromocytoma
(Bioscientifica, 2014-01)
A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite ...
Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chilenoBilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
(2022-08)
Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules ...
Rare tumors in pediatrics: First report in ArgentinaTumores raros en pediatría: Primer reporte en a Argentina
(Sociedad Argentina de Pediatría, 2021-12)
Introduction: Collaborative clinical trials have enlarged the knowledge base about pediatric tumors; however, this is not the case for rare tumors (RT).Objective: To describe the prevalence, clinical characteristics, and ...