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Adrian F Daly and Albert Beckers

component tumors of the Carney triad ( Neumann & Eng 2009 , Barnett et al . 2013 , Vicha et al . 2014 ). The number of mutated genes associated with sporadic and familial types of paraganglioma/pheochromocytoma has grown rapidly, involving processes that

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Kimberly Perez, Heather Jacene, Jason L Hornick, Chao Ma, Nuno Vaz, Lauren K Brais, Holly Alexander, William Baddoo, Kristina Astone, Edward D Esplin, John Garcia, Daniel M Halperin, Matthew H Kulke, and Jennifer A Chan

Background Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors (NETs) that share a neural crest origin and are histologically indistinguishable. PHEOs account for 90% of cases and arise in the adrenal medulla

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Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, Ajith V Kumar, William M Drake, Donato Iacovazzo, Kassiani Skordilis, Daniel Berney, Ma’en Al-Mrayat, Bernard Khoo, and Scott A Akker

/ddq206 ) Burnichon N Cascon A Schiavi F Morales NP Comino-Mendez I Abermil N Inglada-Perez L de Cubas AA Amar L Barontini M 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma

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Esther Korpershoek, Nanne K Kloosterhof, Angelique Ziel-van der Made, Hanneke Korsten, Lindsey Oudijk, Jan Trapman, Winand N M Dinjens, and Ronald R de Krijger

cause of hereditary pheochromocytoma . Nature Genetics 43 663 – 667 . ( doi:10.1038/ng.861 ). Chung YJ Jonkers J Kitson H Fiegler H Humphray S Scott C Hunt S Yu Y Nishijima I Velds A 2004 A whole-genome mouse BAC

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E Kim, E M Rath, V H M Tsang, A P Duff, B G Robinson, W B Church, D E Benn, T Dwight, and R J Clifton-Bligh

– 4774 . ( doi:10.1210/jc.2002-020525 ). Gimenez-Roqueplo AP Dahia PL Robledo M 2012 An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes . Hormone and Metabolic Research 44 328 – 333 . ( doi:10

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Arthur Varoquaux, Electron Kebebew, Fréderic Sebag, Katherine Wolf, Jean-François Henry, Karel Pacak, and David Taïeb

paraganglia sites. They can occur as sporadic or hereditary tumors, with the latter accounting for at least 40% of cases. Of all known genetic mutations, those in the succinate dehydrogenase ( SDHx ) complex subunit D ( SDHD ) gene are currently the leading

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Margo Dona, Selma Waaijers, Susan Richter, Graeme Eisenhofer, Jeroen Korving, Sarah M Kamel, Jeroen Bakkers, Elena Rapizzi, Richard J Rodenburg, Jan Zethof, Marnix Gorissen, Gert Flik, Peter M T Deen, and Henri J L M Timmers

of a heterozygous SDH mutation are at risk of developing pheochromocytomas and paragangliomas (PPGLs), although usually a second hit in the form of a somatic mutation in the unaffected SDHB allele is required for the development of PPGLs. PPGLs

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Elena Rapizzi, Rossella Fucci, Elisa Giannoni, Letizia Canu, Susan Richter, Paolo Cirri, and Massimo Mannelli

metabolism. In this scenario, the relevance of mitochondria as central metabolic organelles that play a pivotal role in cell biochemical functions is once again in vogue. A clear example can be found in some tumors, like pheochromocytomas (PHEO) and

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P N Span, J U Rao, S B J Oude Ophuis, J W M Lenders, F C G J Sweep, P Wesseling, B Kusters, F H van Nederveen, R R de Krijger, A R M M Hermus, and H J L M Timmers

Introduction Paragangliomas (PGLs) are catecholamine-producing tumors that originate from chromaffin cells of the adrenal medulla (pheochromocytoma proper) or from sympathetic neuronal tissue in extra-adrenal locations of the abdomen or chest

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Catherine Goudie, Fady Hannah-Shmouni, Mahmure Kavak, Constantine A Stratakis, and William D Foulkes

syndrome; FAP, familial adenomatous polyposis; LFS, Li-Fraumeni syndrome; HLRCC, hereditary leiomyomatosis and renal cell carcinoma; HPPS, hereditary pheochromocytoma and paraganglioma syndrome; HPT-JT, hyperparathyroidism-jaw-tumour syndrome; MEN1