Dora Varvara

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria Carmela Loconte, Valentina Grossi, Cristina Bozzao et al. · PLoS ONE · 2015 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Robert Blatter, Benjamin Tschupp, Stefan Aretz et al. · Genetics in Medicine · 2020 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte et al. · Genes · 2018 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients

Cristina Bozzao, Dora Varvara, Marilidia Piglionica et al. · The International Journal of Biological Markers · 2012 · 23 citations · Full text

Medicine, Molecular Genetics, Oncology +17

Characterization of the rs2802292 SNP identifies FOXO3Aas a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

Giovanna Forte, Valentina Grossi, Valentina Celestini et al. · BMC Cancer · 2014 · 13 citations · Full text

Life Sciences, Genetics, Oncology +17