20172019

Research output per year

If you made any changes in Pure these will be visible here soon.

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

  • 4 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Palumbo, P., Petracca, A., Maggi, R., Biagini, T., Nardella, G., Sacco, M. C., Di Schiavi, E., Carella, M., Micale, L. & Castori, M., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

  • Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

    Ritelli, M., Rovati, C., Venturini, M., Chiarelli, N., Cinquina, V., Castori, M. & Colombi, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

    Research output: Contribution to journalArticle

  • Characterization of two novel intronic variants affecting splicing in FBN1-related disorders

    Fusco, C., Morlino, S., Micale, L., Ferraris, A., Grammatico, P. & Castori, M., Jun 1 2019, In : Genes. 10, 6, 442.

    Research output: Contribution to journalArticle

    Open Access
  • COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

    Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

    Research output: Contribution to journalArticle