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Page 1
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA. Janeway KA, et al. Among authors: gaal j. Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8. doi: 10.1073/pnas.1009199108. Epub 2010 Dec 20. Proc Natl Acad Sci U S A. 2011. PMID: 21173220 Free PMC article.
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: gaal j. 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.
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: gaal j. 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
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: gaal j. 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
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: gaal j. 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
169 results