GERVASINI, CRISTINA COSTANZA GIOVANNA
GERVASINI, CRISTINA COSTANZA GIOVANNA
Dipartimento di Scienze della Salute
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
2024 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
SMC1A epilepsy syndrome: clinical data from a large international cohort
2024 E. Gibellato, P. Cianci, M. Mariani, B. Parma, S. Huisman, R. Śmigiel, A. Bisgaard, V. Massa, C. Gervasini, A. Moretti, A. Cattoni, A. Biondi, A. Selicorni
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
2024 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
Dermatological findings in Rubinstein-Taybi Syndrome
2023 F. Cammarata-Scalisi, A. Diociaiuti, A. Cárdenas Tadich, X. Sandoval, T. Oranges, C. Filippeschi, M. Araya Castillo, C.E. Willoughby, A. Cerri, C. Gervasini, M. Callea
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
2023 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
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022 A. Foroutan, S. Haghshenas, P. Bhai, M.A. Levy, J. Kerkhof, H. Mcconkey, M. Niceta, A. Ciolfi, L. Pedace, E. Miele, D. Genevieve, S. Heide, M. Alders, G. Zampino, G. Merla, M. Fradin, E. Bieth, D. Bonneau, K. Dieterich, P. Fergelot, E. Schaefer, L. Faivre, A. Vitobello, S. Maitz, R. Fischetto, C. Gervasini, M. Piccione, I. van de Laar, M. Tartaglia, B. Sadikovic, A.-. Lebre
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
2022 M.A. Levy, H. Mcconkey, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M.P. Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B.R. Dupont, M.W. Elting, L. Faivre, T. Fee, R.S. Fletcher, F. Cherik, A. Foroutan, M.J. Friez, C. Gervasini, S. Haghshenas, B.A. Hilton, Z. Jenkins, S. Kaur, S. Lewis, R.J. Louie, S. Maitz, D. Milani, A.T. Morgan, R. Oegema, E. Østergaard, N.R. Pallares, M. Piccione, S. Pizzi, A.S. Plomp, C. Poulton, J. Reilly, R. Relator, R. Rius, S. Robertson, K. Rooney, J. Rousseau, G.W.E. Santen, F. Santos-Simarro, J. Schijns, G.M. Squeo, M. St John, C. Thauvin-Robinet, G. Traficante, P.J. van der Sluijs, S.A. Vergano, N. Vos, K.K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J.A. Lee, M.M.A.M. Mannens, T. Roscioli, V. Siu, D.J. Amor, G. Baynam, E.G. Bend, K. Boycott, N. Brunetti-Pierri, P.M. Campeau, J. Christodoulou, D. Dyment, N. Esber, J.A. Fahrner, M.D. Fleming, D. Genevieve, K.D. Kerrnohan, A. Mcneill, L.A. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S.A. Skinner, R.E. Stevenson, A. Vitobello, M. Tartaglia, M. Alders, M.L. Tedder, B. Sadikovic
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies
2022 E. Di Fede, P. Grazioli, A. Lettieri, C. Parodi, S. Castiglioni, E. Taci, E.A. Colombo, S. Ancona, A. Priori, C. Gervasini, V. Massa
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
2022 F. Saettini, G. Fazio, M.T. Bonati, D. Moratto, V. Massa, E. Di Fede, S. Castiglioni, D. Marchetti, M. Chiarini, A. Sottini, M. Iascone, G. Cazzaniga, L. Imberti, A. Biondi, C. Gervasini, R. Badolato
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A)
2022 D. Rovina, E. Castiglioni, S. Mallia, M. Rabino, A. Farini, M. Belicchi, G. Di Giuseppe, C.C.G. Gervasini, Y. Torrente, G. Pompilio, A. Gowran
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
2022 J. Kerkhof, G.M. Squeo, H. Mcconkey, M.A. Levy, M.R. Piemontese, M. Castori, M. Accadia, E. Biamino, M. Della Monica, M.C. Di Giacomo, C. Gervasini, S. Maitz, D. Melis, D. Milani, M. Piccione, P. Prontera, A. Selicorni, B. Sadikovic, G. Merla
LAM cells as potential drivers of senescence in lymphangioleiomyomatosis microenvironment
2022 C. Bernardelli, S. Ancona, M. Lazzari, A. Lettieri, P. Selvaggio, V. Massa, C.C.G. Gervasini, F. DI MARCO, R. Chiaramonte, E.A. Lesma
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
2022 B. Rinaldi, Y.-. Ge, E. Freri, A. Tucci, T. Granata, M. Estienne, J.-. Sun, B. Gerard, A. Bayat, S. Efthymiou, C. Gervasini, Y.S. Shi, H. Houlden, P. Marchisio, D. Milani
KMT2A : umbrella gene for multiple diseases
2022 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
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
2022 M. Levy, R. Relator, H. Mcconkey, E. Pranckeviciene, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M. Palomares Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B. Dupont, M. Elting, L. Faivre, T. Fee, M. Ferilli, R. Fletcher, F. Cherick, A. Foroutan, M. Friez, C. Gervasini, S. Haghshenas, B. Hilton, Z. Jenkins, S. Kaur, S. Lewis, R. Louie, S. Maitz, D. Milani, A. Morgan, R. Oegema, E. Østergaard, N. Pallares, M. Piccione, A. Plomp, C. Poulton, J. Reilly, R. Rius, S. Robertson, K. Rooney, J. Rousseau, G. Santen, F. Santos-Simarro, J. Schijns, G. Squeo, M. John, C. Thauvin-Robinet, G. Traficante, P. van der Sluijs, S. Vergano, N. Vos, K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J. Lee, M. Mannens, T. Roscioli, V. Siu, D. Amor, G. Baynam, E. Bend, K. Boycott, N. Brunetti-Pierri, P. Campeau, D. Campion, J. Christodoulou, D. Dyment, N. Esber, J. Fahrner, M. Fleming, D. Genevieve, D. Heron, T. Husson, K. Kernohan, A. Mcneill, L. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S. Skinner, R. Stevenson, M. Vincent, A. Vitobello, M. Tartaglia, M. Alders, M. Tedder, B. Sadikovic
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021 C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, V. Massa
Editorial: Impact on Embryonic Development of Chromatin Remodeling Alterations
2021 C. Gervasini, M. Garcia-Dominguez, V. Massa
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
2021 P. Grazioli, C. Parodi, M. Mariani, D. Bottai, E. Di Fede, A. Zulueta, L. Avagliano, A. Cereda, R. Tenconi, J. Wierzba, R. Adami, M. Iascone, P.F. Ajmone, T. Vaccari, C. Gervasini, A. Selicorni, V. Massa
ANKRD11 variants : KBG syndrome and beyond
2021 I. Parenti, M.B. Mallozzi, I. Hüning, C.C.G. Gervasini, A. Kuechler, E. Agolini, B. Albrecht, C. Baquero, A. Bohring, N.C. Bramswig, A. Busche, A. Dalski, Y. Guo, B. Hanker, Y. Hellenbroich, D. Horn, A. Micheil Innes, C. Leoni, Y.R. Li, S. Ann Lynch, M. Mariani, L. Medne, B. Mikat, D. Milani, R. Onesimo, X. Ortiz-Gonzalez, E. Christina Prott, H. Reutter, E. Rossier, A. Selicorni, P. Wieacker, A. Wilkens, D. Wieczorek, E.H. Zackai, G. Zampino, B. Zirn, H. Hakonarson, M.A. Deardorff, G. Gillessen-Kaesbach, F.J. Kaiser
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome
2021 E. Di Fede, E. Ottaviano, P. Grazioli, C. Ceccarani, A. Galeone, C. Parodi, E.A. Colombo, G. Bassanini, G. Fazio, M. Severgnini, D. Milani, E. Verduci, T. Vaccari, V. Massa, E. Borghi, C. Gervasini