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Page 1
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
Bayley JP, Oldenburg RA, Nuk J, Hoekstra AS, van der Meer CA, Korpershoek E, McGillivray B, Corssmit EP, Dinjens WN, de Krijger RR, Devilee P, Jansen JC, Hes FJ. Bayley JP, et al. BMC Med Genet. 2014 Oct 10;15:111. doi: 10.1186/s12881-014-0111-8. BMC Med Genet. 2014. PMID: 25300370 Free PMC article.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B. Richter S, et al. Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27. Genet Med. 2019. PMID: 30050099 Free PMC article.
Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers.
Dreijerink KMA, Rijken JA, Compaijen CJ, Timmers HJLM, van der Horst-Schrivers ANA, van Leeuwaarde RS, van Dam PS, Leemans CR, van Dam EWCM, Dickhoff C, Dommering CJ, de Graaf P, Zwezerijnen GJC, van der Valk P, Menke-Van der Houven van Oordt CW, Hensen EF, Corssmit EPM, Eekhoff EMW. Dreijerink KMA, et al. J Clin Endocrinol Metab. 2019 Nov 1;104(11):5421-5426. doi: 10.1210/jc.2019-00202. J Clin Endocrinol Metab. 2019. PMID: 31194241