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Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

Article Abstract:

An attempt is made to determine the differences in clinical features in carriers of succinate dehydrogenase subunit B (SDHB) mutations and succinate dehydrogenase subunit D (SDHD) mutations. Results reveal that in contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutations carriers (PGL-4) are more likely to develop malignant disease.

Author: Eng, Charis, Neumann, Hartmut P. H., Pawlu, Christian, Peczkowska, Mariola, Bausch, Birke, McWhinney, Sarah R., Muresan, Mihaela, Franke, Gerlind, Buchta, Mary, Klisch, Joachim, Bley, Thorstem A., Hoegerle, Stefan, Boedeker, Carsten C., Opocher, Giuseppe, Januszewicz, Andrzej, Schipper, Jorg
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2004
Fluke infections

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Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

Article Abstract:

The prevalence and clinical characteristics of succinate dehydrogenase (SDH)C mutation carrier compared with patients with SDHB and SDHD mutations and with sporadic cases is determined. Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal.

Author: Neumann, Hartmut P.H., Valimaki, Matti, Eng, Charis, Pawlu, Christian, Peczkowska, Mariola, Muresan, Mihaela, Buchta, Mary, Boedeker, Carsten C., Opocher, Giuseppe, Januszewicz, Andrzej, Schipper, Jorg, Schiavi, Francesca, Bausch, Brike, omez, Clara Fuentes, Hoffmann, Michael M., Berlis, Ansgar, Szuthowski, Zbigniew, Salzmann, Maren, Walz, Martin K., Cybulla, Markus, Kawecki, Andrzej, Pigny, Pascal, Bauters, Catherine, Forrer, Flavio, Brink, Ingo, Willet-Brozick, Joan E., Baysal, Bora E., Strassburg, Thomas, Walter, Martin A.
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2005
United States, All Other Basic Organic Chemical Manufacturing, Industrial Organic Chemicals, Succinates, Gliomas

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Evidence of Men-2 in the original description of classic pheochromocytoma

Article Abstract:

A clinical report of an 18-year old woman with bilateral adrenal sarcoma and angio-sarcoma is discussed. The research of pheochromocytoma was facilitated by detection of the presence of RET mutations in the family members of the patients.

Author: Neumann, Hartmut P.H., Eng, Charis, Bausch, Birke, Januszewicz, Andrzej, Vortmeyer, Alexander, Schmidt, Dieter, Werner, Martin, Erlic, Zoran, Cascon, Alberto
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2007
United Kingdom, Case studies, Pheochromocytoma, Adenomatosis, Familial endocrine, Multiple endocrine neoplasia, Clinical report

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Subjects list: Research, Gene mutations, Gene mutation, Genetic aspects
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