Grazioli Paolo

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]

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]

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency / R. Oleari, A. Lettieri, S. Manzini, A. Paganoni, V. André, P. Grazioli, M. Busnelli, P. Duminuco, A. Vitobello, C. Philippe, V. Bizaoui, H.L. Storr, F. Amoruso, F. Memi, V. Vezzoli, V. Massa, P. Scheiffele, S.R. Howard, A. Cariboni. - In: DISEASE MODELS & MECHANISMS. - ISSN 1754-8403. - 16:3(2023 Mar 01). [10.1242/dmm.049996]

KMT2A : umbrella gene for multiple diseases / S. Castiglioni, E. Di Fede, C. Bernardelli, A. Lettieri, C. Parodi, P. Grazioli, E.A. Colombo, S. Ancona, D. Milani, E. Ottaviano, E. Borghi, V. Massa, F. Ghelma, A. Vignoli, E. Lesma, C. Gervasini. - In: GENES. - ISSN 2073-4425. - 13:3(2022 Mar 15), pp. 514.1-514.15. [10.3390/genes13030514]