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Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

Archive ouverte | Calsina, Bruna | CCSD

International audience. Rationale: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that present variable outcomes. To date, no effective therapies or reliable prognostic markers are avail...

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries. Mise à jour de la base de données UMD-VHL : classification de 164 variants difficiles sur la base de la corrélation génotype-phénotype parmi 605 entrées. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries: Cancer genetics

Archive ouverte | Mougel, Gregory | CCSD

International audience. Background The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in VHL tumour suppressor gene. The identification of VHL variants requires accurate...

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Archive ouverte | Calsina, Bruna | CCSD

International audience. Purpose To prospectively assess the clinical impact of expert review of lymphoma diagnosis in France. Materials and Methods From January 2010 to December 2013, 42,145 samples from patients wi...

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