Výsledky vyhledávání - "Jansen Jeroen C"

Akademický článek

Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature

Autor: Hammer Sebastiaan, Jansen Jeroen C, van der Kleij-Corssmit Eleonora PM, Hes Frederik J, Kruit Mark C

Publikováno v: World Journal of Surgical Oncology, Vol 10, Iss 1, p 218 (2012)

Abstract Background Head and neck paragangliomas are tumors associated with the parasympathetic nerve system and typically show an indolent growth pattern. Therefore a conservative management strategy is considered in selected cases. Methods and resu

Externí odkaz: https://doaj.org/article/d7d29284a7fb4c57af88d29e61a88ef7

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Akademický článek

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

Autor: Jansen Jeroen C, Romijn Johannes A, Morreau Hans, Stokkel Marcel PM, Bonsing Bert A, van Bunderen Patrick A, de Miranda Noel F, Woortman Sanne A, Weiss Marjan M, Hes Frederik J, Vriends Annette HJT, Bayley Jean-Pierre L, Corssmit Eleonora PM

Publikováno v: BMC Medical Genetics, Vol 11, Iss 1, p 92 (2010)

Abstract Background Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate

Externí odkaz: https://doaj.org/article/aa5b92ef78d84d4085dc829d0adffb32

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Akademický článek

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

Autor: Devilee Peter, Dullaart Robin PF, Jansen Jeroen C, Lenders Jacques W, Kunst Henricus P, van der Wielen Michiel, van Bunderen Patrick A, Grimbergen Anneliese EM, Bayley Jean-Pierre, Corssmit Eleonora P, Vriends Annette H, Losekoot Monique, Weiss Marjan M

Publikováno v: BMC Medical Genetics, Vol 10, Iss 1, p 34 (2009)

Abstract Background Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH), the mitochondrial tricarb

Externí odkaz: https://doaj.org/article/14184d58d89e4859a739fe430b2415ce

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Akademický článek

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Autor: Wong Nora, Ferrando Barbara, Pasini Barbara, Menko Fred H, Oomen Peter HN, Jansen Jeroen C, Weiss Marjan M, van Minderhout Ivonne, Bayley Jean-Pierre, Alpert Lesley C, Williams Rosie, Blair Edward, Devilee Peter, Taschner Peter EM

Publikováno v: BMC Medical Genetics, Vol 7, Iss 1, p 1 (2006)

Abstract Background Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic

Externí odkaz: https://doaj.org/article/5c582a0c4c434a2d8e72ae4ab7442a3b

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