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List of works by Roberto Tirabosco

A common single-nucleotide variant in T is strongly associated with chordoma

scientific article

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

scientific article

An integrated functional genomics approach identifies the regulatory network directed by brachyury (T) in chordoma

scientific article

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

journal article published in 2015

Analysis of the fibroblastic growth factor receptor-RAS/RAF/MEK/ERK-ETS2/brachyury signalling pathway in chordomas

scientific article

Brachyury expression in extra-axial skeletal and soft tissue chordomas: a marker that distinguishes chordoma from mixed tumor/myoepithelioma/parachordoma in soft tissue

scientific article

Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas

scientific article

Dedifferentiated chordoma: a report of four cases arising 'de novo'.

scientific article

Diagnosing an extra-axial chordoma of the proximal tibia with the help of brachyury, a molecule required for notochordal differentiation

scientific article

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

scientific article

EGFR inhibitors identified as a potential treatment for chordoma in a focused compound screen

scientific article

Genome-wide association study identifies two susceptibility loci for osteosarcoma

scientific article (publication date: July 2013)

H3F3A (Histone 3.3) G34W Immunohistochemistry: A Reliable Marker Defining Benign and Malignant Giant Cell Tumor of Bone

scientific article

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

journal article published in 2014

MicroRNA profiling of peripheral nerve sheath tumours identifies miR-29c as a tumour suppressor gene involved in tumour progression ⬇️

scientific article published on November 22, 2012

PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group

scientific article (publication date: June 2002)

Potential therapeutic targets for chordoma: PI3K/AKT/TSC1/TSC2/mTOR pathway

scientific article

Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study

scientific article

The role of epidermal growth factor receptor in chordoma pathogenesis: a potential therapeutic target

scientific article

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