GERVASINI, CRISTINA COSTANZA GIOVANNA
GERVASINI, CRISTINA COSTANZA GIOVANNA
Dipartimento di Scienze della Salute
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
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
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
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
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
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
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
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
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
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
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
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
Saliva detection of SARS-CoV-2 for mitigating company outbreaks: A surveillance experience, Milan, Italy, March 2021
2021 E. Ottaviano, C. Parodi, E. Borghi, V. Massa, C. Gervasini, S. Centanni, G. Zuccotti, S. Bianchi
Semaphorin Regulation by the Chromatin Remodeler CHD7 : An Emerging Genetic Interaction Shaping Neural Cells and Neural Crest in Development and Cancer
2021 A. Lettieri, R. Oleari, A.J.J. Paganoni, C. Gervasini, V. Massa, A. Fantin, A. Cariboni
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome
2021 E. Di Fede, A. Peron, E.A. Colombo, C. Gervasini, A. Vignoli
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
2021 A. Latorre-Pellicer, M. Gil-Salvador, I. Parenti, C. Lucia-Campos, L. Trujillano, I. Marcos-Alcalde, M. Arnedo, A. Ascaso, A. Ayerza-Casas, R. Antonanzas-Perez, C. Gervasini, M. Piccione, M. Mariani, A. Weber, D. Kanber, A. Kuechler, M. Munteanu, K. Khuller, G. Bueno-Lozano, B. Puisac, P. Gomez-Puertas, A. Selicorni, F.J. Kaiser, F.J. Ramos, J. Pie
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
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient
2021 F. Saettini, S. Radaelli, L. Ocello, G.M. Ferrari, P. Corti, F. Dell'Acqua, D. Ippolito, S. Foresti, C. Gervasini, R. Badolato, A. Biondi