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European Journal of Human Genetics (1)
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FMISO-PET-derived brain oxygen tension maps: application to glioblastoma and less aggressive gliomas

Ararat Chakhoyan
Jean-Sebastien Guillamo
Samuel Valable
ResearchOpen Access31 Aug 2017
Scientific Reports

Volume: 7, P: 1-9
A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas

Chordoid glioma is a slow growing diencephalic tumor whose mutational landscape is poorly characterized. Here, the authors perform whole-exome and RNA-sequencing and find that 15 of 16 chordoid glioma cases studied harbor the same PRKCA mutation which results in enhanced proliferation.

Shai Rosenberg
Iva Simeonova
Marc Sanson
ResearchOpen Access18 Jun 2018
Nature Communications

Volume: 9, P: 1-9
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

Arnault Tauziède-Espariat
Julien Masliah-Planchon
Franck Bourdeaut
ResearchOpen Access19 Jul 2017
European Journal of Human Genetics

Volume: 25, P: 1170-1172