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Henri J L M Timmers, Anne-Paule Gimenez-Roqueplo, Massimo Mannelli, and Karel Pacak

syndromes with which sPGL is associated are multiple endocrine neoplasia type 2 ( RET mutations), von Hippel-Lindau disease ( VHL mutations), hereditary PGL/pheochromocytoma syndromes ( SDHx mutations), and rarely neurofibromatosis type 1 ( NF1 mutations

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Ioana N Milos, Karin Frank-Raue, Nelson Wohllk, Ana Luiza Maia, Eduardo Pusiol, Attila Patocs, Mercedes Robledo, Josefina Biarnes, Marta Barontini, Thera P Links, Jan Willem de Groot, Sarka Dvorakova, Mariola Peczkowska, Lisa A Rybicki, Maren Sullivan, Friedhelm Raue, Ioana Zosin, Charis Eng, and Hartmut P H Neumann

of hereditary medullary thyroid cancer . New England Journal of Medicine 349 1517 – 1525 . Machens A Brauckhoff M Holzhausen H-J Thanh PN Lehnert H Dralle H 2005 Codon-specific development of pheochromocytoma in multiple endocrine

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Diana E Benn, Bruce G Robinson, and Roderick J Clifton-Bligh

pheochromocytomas or paragangliomas . Journal of Clinical Endocrinology and Metabolism 92 3822 – 3828 . ( doi:10.1210/jc.2007-0709 ). Astrom K Cohen JE Willett-Brozick JE Aston CE Baysal BE 2003 Altitude is a phenotypic modifier in hereditary

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B Havekes, A A van der Klaauw, M M Weiss, J C Jansen, A G L van der Mey, A H J T Vriends, B A Bonsing, J A Romijn, and E P M Corssmit

thorax and abdomen. Some paragangliomas produce excessive amounts of catecholamines, especially if they are located in the adrenals (pheochromocytoma). Familial paraganglioma syndromes are associated with germ-line mutations in the genes encoding subunits

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Graeme Eisenhofer, Karel Pacak, Thanh-Truc Huynh, Nan Qin, Gennady Bratslavsky, W Marston Linehan, Massimo Mannelli, Peter Friberg, Stefan K Grebe, Henri J Timmers, Stefan R Bornstein, and Jacques W M Lenders

norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel–Lindau syndrome . Endocrine-Related Cancer 11 897 – 911 doi:10.1677/erc.1.00838 . Eisenhofer G Kopin IJ

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Jean-Pierre Bayley and Peter Devilee

Introduction Paraganglioma–pheochromocytoma Paragangliomas and pheochromocytomas are neuroendocrine tumors that arise mainly in the adrenal medulla or paraganglia of the head and neck, but may also develop in abdominal or thoracic

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Alberto Cascón, Lucía Inglada-Pérez, Iñaki Comino-Méndez, Aguirre A de Cubas, Rocío Letón, Jaume Mora, Mónica Marazuela, Juan Carlos Galofré, Miguel Quesada-Charneco, and Mercedes Robledo

Cubas AA Amar L Barontini M 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma . Clinical Cancer Research 18 2828 – 2837 . ( doi:10.1158/1078-0432.CCR-12-0160 ). Cascon A Montero-Conde C Ruiz

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Jean-Pierre Bayley, Marjan M Weiss, Anneliese Grimbergen, Bernadette T J van Brussel, Frederik J Hes, Jeroen C Jansen, Senno Verhoef, Peter Devilee, Eleonora P Corssmit, and Annette H J T Vriends

pheochromocytomas when occurring in the adrenal medulla, and as extra-adrenal paragangliomas. Head and neck paragangliomas may lead to significant morbidity due to compromised function of cranial nerves, but generally follow a benign course. Sympathetic

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Noriko Kimura, Kazuhiro Takekoshi, Akira Horii, Ryo Morimoto, Tsuneo Imai, Yutaka Oki, Tomohito Saito, Sanae Midorikawa, Tadashi Arao, Chiho Sugisawa, Masanobu Yamada, Yuichi Otuka, Isao Kurihara, Kokichi Sugano, Minoru Nakane, Atsushi Fukuuchi, Takumi Kitamoto, Jun Saito, Tetsuo Nishikawa, and Mitsuhide Naruse

Dear Editor Pheochromocytoma (PCC) and paraganglioma (PGL) are genetically and phenotypically heterogeneous catecholamine-producing neoplasms. They can occur sporadically or as a part of hereditary disease. Approximately 30% of PCC/PGL are believed

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Andreas Machens and Henning Dralle

Introduction More than fifty years ago, the medical community witnessed the birth of a new hereditary endocrine syndrome encompassing medullary thyroid cancer (MTC) and pheochromocytoma: ‘Sipple syndrome’, named after the author of this