Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families

Archive ouverte | Tusseau, M. | CCSD

International audience. Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a dominant inherited vascular disorder. The clinical diagnosis is based on the Curaçao criteria and pa...

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

Archive ouverte | Casilli, F. | CCSD

Descriptive epidemiology of 399 histologically confirmed newly diagnosed meningeal solitary fibrous tumours and haemangiopericytomas in France: 2006–2015

Archive ouverte | Champeaux Depond, Charles | CCSD

International audience. Purpose: Meningeal solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) are uncommon tumours that have been merged into a single entity in the last 2021 WHO Classification of Tumors of...