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Phenotype of SDHB mutation carriers in the Netherlands.
van Hulsteijn LT, Niemeijer ND, Hes FJ, Bayley JP, Tops CM, Jansen JC, Corssmit EP. van Hulsteijn LT, et al. Among authors: bayley jp. Fam Cancer. 2014 Dec;13(4):651-7. doi: 10.1007/s10689-014-9738-z. Fam Cancer. 2014. PMID: 25047027
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.
Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers.
Hoekstra AS, Addie RD, Ras C, Seifar RM, Ruivenkamp CA, Briaire-de Bruijn IH, Hes FJ, Jansen JC, Corssmit EP, Corver WE, Morreau H, Bovée JV, Bayley JP, Devilee P. Hoekstra AS, et al. Among authors: bayley jp. Hum Mol Genet. 2016 Sep 1;25(17):3715-3728. doi: 10.1093/hmg/ddw218. Epub 2016 Jul 8. Hum Mol Genet. 2016. PMID: 27402879
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. Among authors: bayley jp. Oncotarget. 2017 Feb 28;8(9):14525-14536. doi: 10.18632/oncotarget.14649. Oncotarget. 2017. PMID: 28099933 Free PMC article.
65 results