Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sanne A. Woortman"'
Autor:
Anelia Horvath, Eirini I. Bimpaki, Alberto M. Pereira, Constantine A. Stratakis, Johannes W. A. Smit, Elizabeth Greene, Johannes A. Romijn, Maria Nesterova, Sosipatros Boikos, Anton Alatsatianos, Sanne A. Woortman, Frederik J. Hes
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 95(1), 338-342
Journal of clinical endocrinology and metabolism, 95(1), 338-342. The Endocrine Society
Journal of clinical endocrinology and metabolism, 95(1), 338-342. The Endocrine Society
Background: Carney complex (CNC) is a familial multiple neoplasia syndrome frequently associated with primary pigmented nodular adrenocortical disease (PPNAD), a bilateral form of micronodular adrenal hyperplasia that leads to Cushing's syndrome (CS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0428f46546f1c5816e991cd25ac87145
https://doi.org/10.1210/jc.2009-0993
https://doi.org/10.1210/jc.2009-0993
Autor:
Bert A. Bonsing, Jeroen C. Jansen, Marcel P. M. Stokkel, Patrick A. van Bunderen, Johannes A. Romijn, Noel F C C de Miranda, Annette H. J. T. Vriends, Eleonora P M Corssmit, Sanne A. Woortman, Jean-Pierre Bayley, Frederik J. Hes, Hans Morreau, Marjan M. Weiss
Publikováno v:
BMC medical genetics, 11. BioMed Central
BMC Medical Genetics, 11
BMC Medical Genetics
BMC Medical Genetics, Vol 11, Iss 1, p 92 (2010)
BMC Medical Genetics, 11
BMC Medical Genetics
BMC Medical Genetics, Vol 11, Iss 1, p 92 (2010)
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 the phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e208c3b71b0843a87a94bd6ab3adeadb
https://pure.amc.nl/en/publications/low-penetrance-of-a-sdhb-mutation-in-a-large-dutch-paraganglioma-family(f89ccbe4-a9f2-45b2-b037-b347e958c260).html
https://pure.amc.nl/en/publications/low-penetrance-of-a-sdhb-mutation-in-a-large-dutch-paraganglioma-family(f89ccbe4-a9f2-45b2-b037-b347e958c260).html
