Colombo Elisa Adele

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter / S. Castiglioni, L. Pezzoli, L. Pezzani, A. Lettieri, E. Di Fede, A. Cereda, S. Ancona, A. Gallina, E.A. Colombo, C. Parodi, P. Grazioli, E. Taci, D. Milani, M. Iascone, V. Massa, C. Gervasini. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 19:1(2024 Dec 20), pp. 481.1-481.9. [10.1186/s13023-024-03507-0]

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management / L. Avagliano, S. Castiglioni, A. Lettieri, C. Parodi, E. Di Fede, E. Taci, P. Grazioli, E.A. Colombo, C. Gervasini, V. Massa. - In: BIRTH DEFECTS RESEARCH. - ISSN 2472-1727. - 116:7(2024 Jul), pp. e2383.1-e2383.16. [10.1002/bdr2.2383]

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith–Wiedemann Syndrome Cell Lines / S. Pileggi, E.A. Colombo, S. Ancona, R. Quadri, C. Bernardelli, P. Colapietro, M. Taiana, L. Fontana, M. Miozzo, E. Lesma, S.M. Sirchia. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 25:7(2024 Mar 22), pp. 3586.1-3586.18. [10.3390/ijms25073586]

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies / E. Di Fede, A. Lettieri, E. Taci, S. Castiglioni, S. Rebellato, C. Parodi, E.A. Colombo, P. Grazioli, F. Natacci, P. Marchisio, L. Pezzani, G. Fazio, D. Milani, V. Massa, C. Gervasini. - In: HUMAN GENETICS. - ISSN 0340-6717. - (2024), pp. 1-13. [Epub ahead of print] [10.1007/s00439-024-02675-0]

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling / E.A. Colombo, M. Valiante, M. Uggeri, A. Orro, S. Majore, P. Grammatico, D. Gentilini, P. Finelli, C.C.G. Gervasini, P. D’Ursi, L. Larizza. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 24:4(2023 Feb 16), pp. 4028.1-4028.19. [10.3390/ijms24044028]