20042020

Research output per year

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Fingerprint Dive into the research topics where Tommaso Mazza is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer

Mazza, T., Gioffreda, D., Fontana, A., Biagini, T., Carella, M., Palumbo, O., Maiello, E., Bazzocchi, F., Andriulli, A. & Tavano, F., Feb 4 2020, In : Frontiers in Oncology. 10, 44.

Research output: Contribution to journalArticle

Open Access
  • Compound phenotype due to recessive variants in larp7 and otog genes disclosed by an integrated approach of snp-array and whole exome sequencing

    Palumbo, P., Palumbo, O., Leone, M. P., Di Muro, E., Castellana, S., Bisceglia, L., Mazza, T., Carella, M. & Castori, M., Apr 2020, In : Genes. 11, 4, 379.

    Research output: Contribution to journalArticle

    Open Access
  • Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

    Squeo, G. M., Augello, B., Massa, V., Milani, D., Colombo, E. A., Mazza, T., Castellana, S., Piccione, M., Maitz, S., Petracca, A., Prontera, P., Accadia, M., Della Monica, M., Di Giacomo, M. C., Melis, D., Selicorni, A., Giglio, S., Fischetto, R., Di Fede, E., Malerba, N. & 4 others, Russo, M., Castori, M., Gervasini, C. & Merla, G., Jan 1 2020, (Accepted/In press) In : Journal of Medical Genetics. jmedgenet-2019-106724.

    Research output: Contribution to journalArticle

  • Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

    Di Fede, E., Massa, V., Augello, B., Squeo, G., Scarano, E., Perri, A. M., Fischetto, R., Causio, F. A., Zampino, G., Piccione, M., Curridori, E., Mazza, T., Castellana, S., Larizza, L., Ghelma, F., Colombo, E. A., Gandini, M. C., Castori, M., Merla, G., Milani, D. & 1 others, Gervasini, C., 2020, (Accepted/In press) In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

    Open Access
  • Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

    Micale, L., Morlino, S., Biagini, T., Carbone, A., Fusco, C., Ritelli, M., Giambra, V., Zoppi, N., Nardella, G., Notarangelo, A., Schirizzi, A., Mazzoccoli, G., Grammatico, P., Wade, E. M., Mazza, T., Colombi, M. & Castori, M., Jun 1 2020, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1866, 6, 165742.

    Research output: Contribution to journalArticle