GERVASINI, CRISTINA COSTANZA GIOVANNA
GERVASINI, CRISTINA COSTANZA GIOVANNA
Dipartimento di Scienze della Salute
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
2025 L. Rigotti, S. Rebellato, A. Lettieri, S. Castiglioni, M. Mariani, S. Totaro, C. Saitta, C. Gervasini, G. Fazio, V. Massa, G. Cazzaniga, A. Selicorni
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
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
2024 L. Avagliano, S. Castiglioni, A. Lettieri, C. Parodi, E. Di Fede, E. Taci, P. Grazioli, E.A. Colombo, C. Gervasini, V. Massa
Generation and benchmarking of a collection of hiPSC lines from Schizophrenia Patients with Diverse Clinical Profiles
2024 E.R. Vecchi, C.V. Olmeda, D. Bottai, P. Finelli, M.M.A. Salavarria, C. Gervasini, L. Mangiaterra, F. Lombardi, C. Sanguineti, M. Onorati, L. Conti, A. D'Agostino
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
Targeting senescence as a novel pharmacological approach in Lymphangioleiomyomatosis
2024 C. Bernardelli, P. Selvaggio, S. Rosa, E. Di Fede, E. Taci, V. Massa, C. Gervasini, E. Lesma
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
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
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
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
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
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
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
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
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
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
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
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
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines
2021 S. Pileggi, M. La Vecchia, E.A. Colombo, L. Fontana, P. Colapietro, D. Rovina, A. Morotti, S.M. Tabano, G. Porta, M. Alcalay, C.C.G. Gervasini, M.R. Miozzo, S.M. Sirchia