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Marco Castori

20172019

Research output per year

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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 journal › Article

    • 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 journal › Article

    • Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2

    Guarnieri, V., Morlino, S., Di Stolfo, G., Mastroianno, S., Mazza, T. & Castori, M., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journal › Article

    • 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 journal › Article

    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 journal › Article