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Page 1
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M. Bayley JP, et al. Among authors: de knijff p, de krijger rr. Lancet Oncol. 2010 Apr;11(4):366-72. doi: 10.1016/S1470-2045(10)70007-3. Epub 2010 Jan 11. Lancet Oncol. 2010. PMID: 20071235
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
van Nederveen FH, Gaal J, Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, Mannelli M, Bayley JP, Perren A, Niemann S, Verhofstad AA, de Bruïne AP, Maher ER, Tissier F, Méatchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, François J, de Herder WW, Peeters MP, van Linge A, Lenders JW, Gimenez-Roqueplo AP, de Krijger RR, Dinjens WN. van Nederveen FH, et al. Among authors: de bruyn em, de herder ww, de bruine ap, de krijger rr. Lancet Oncol. 2009 Aug;10(8):764-71. doi: 10.1016/S1470-2045(09)70164-0. Epub 2009 Jul 1. Lancet Oncol. 2009. PMID: 19576851 Free PMC article. Clinical Trial.
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. Among authors: de krijger rr. BMC Med Genet. 2014 Oct 10;15:111. doi: 10.1186/s12881-014-0111-8. BMC Med Genet. 2014. PMID: 25300370 Free PMC article.
The occurrence of SDHB gene mutations in pheochromocytoma.
Van Nederveen FH, Dinjens WN, Korpershoek E, De Krijger RR. Van Nederveen FH, et al. Among authors: de krijger rr. Ann N Y Acad Sci. 2006 Aug;1073:177-82. doi: 10.1196/annals.1353.018. Ann N Y Acad Sci. 2006. PMID: 17102084
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.
Gaal J, van Nederveen FH, Erlic Z, Korpershoek E, Oldenburg R, Boedeker CC, Kontny U, Neumann HP, Dinjens WN, de Krijger RR. Gaal J, et al. Among authors: de krijger rr. J Clin Endocrinol Metab. 2009 Nov;94(11):4367-71. doi: 10.1210/jc.2009-1479. Epub 2009 Oct 6. J Clin Endocrinol Metab. 2009. PMID: 19808854
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN. Gaal J, et al. Among authors: de krijger rr. J Clin Endocrinol Metab. 2010 Mar;95(3):1274-8. doi: 10.1210/jc.2009-2170. Epub 2009 Nov 13. J Clin Endocrinol Metab. 2010. PMID: 19915015
Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma.
Cerecer-Gil NY, Figuera LE, Llamas FJ, Lara M, Escamilla JG, Ramos R, Estrada G, Hussain AK, Gaal J, Korpershoek E, de Krijger RR, Dinjens WN, Devilee P, Bayley JP. Cerecer-Gil NY, et al. Among authors: de krijger rr. Clin Cancer Res. 2010 Aug 15;16(16):4148-54. doi: 10.1158/1078-0432.CCR-10-0637. Epub 2010 Jun 30. Clin Cancer Res. 2010. PMID: 20592014
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.
Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP, de Krijger RR. Korpershoek E, et al. Among authors: de herder ww, de krijger rr. J Clin Endocrinol Metab. 2011 Sep;96(9):E1472-6. doi: 10.1210/jc.2011-1043. Epub 2011 Jul 13. J Clin Endocrinol Metab. 2011. PMID: 21752896
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Among authors: de cubas aa, de quiros sb, de krijger rr. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.
Oudijk L, Gaal J, Korpershoek E, van Nederveen FH, Kelly L, Schiavon G, Verweij J, Mathijssen RH, den Bakker MA, Oldenburg RA, van Loon RL, O'Sullivan MJ, de Krijger RR, Dinjens WN. Oudijk L, et al. Among authors: de krijger rr. Mod Pathol. 2013 Mar;26(3):456-63. doi: 10.1038/modpathol.2012.186. Epub 2012 Nov 23. Mod Pathol. 2013. PMID: 23174939 Free article.
336 results