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SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.
Kunst HP, Rutten MH, de Mönnink JP, Hoefsloot LH, Timmers HJ, Marres HA, Jansen JC, Kremer H, Bayley JP, Cremers CW. Kunst HP, et al. Clin Cancer Res. 2011 Jan 15;17(2):247-54. doi: 10.1158/1078-0432.CCR-10-0420. Epub 2011 Jan 11. Clin Cancer Res. 2011. PMID: 21224366 Free article.
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.
Bayley JP, Grimbergen AE, van Bunderen PA, van der Wielen M, Kunst HP, Lenders JW, Jansen JC, Dullaart RP, Devilee P, Corssmit EP, Vriends AH, Losekoot M, Weiss MM. Bayley JP, et al. Among authors: kunst hp. BMC Med Genet. 2009 Apr 15;10:34. doi: 10.1186/1471-2350-10-34. BMC Med Genet. 2009. PMID: 19368708 Free PMC 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: kunst hp. 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
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS, Hensen EF, Jordanova ES, Korpershoek E, van der Horst-Schrivers AN, Cornelisse C, Corssmit EP, Hes FJ, Jansen JC, Kunst HP, Timmers HJ, Bateman A, Eccles D, Bovée JV, Devilee P, Bayley JP. Hoekstra AS, et al. Oncotarget. 2017 Feb 28;8(9):14525-14536. doi: 10.18632/oncotarget.14649. Oncotarget. 2017. PMID: 28099933 Free PMC article.
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Hoekstra AS, de Graaff MA, Briaire-de Bruijn IH, Ras C, Seifar RM, van Minderhout I, Cornelisse CJ, Hogendoorn PC, Breuning MH, Suijker J, Korpershoek E, Kunst HP, Frizzell N, Devilee P, Bayley JP, Bovée JV. Hoekstra AS, et al. Among authors: kunst hp. Oncotarget. 2015 Nov 17;6(36):38777-88. doi: 10.18632/oncotarget.6091. Oncotarget. 2015. PMID: 26472283 Free PMC article.
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP. Weegerink NJ, et al. Among authors: kunst hp. J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23. J Assoc Res Otolaryngol. 2011. PMID: 21786053 Free PMC article.
291 results