GERVASINI, CRISTINA COSTANZA GIOVANNA
GERVASINI, CRISTINA COSTANZA GIOVANNA
Dipartimento di Scienze della Salute
A new report of Cornelia de Lange syndrome associated with split hand and feet
2012-11-01 C. Barboni, A. Cereda, M. Mariani, C. Gervasini, P. Ajmone, A. Biondi, A. Selicorni
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
2013-03-01 C. Castronovo, D. Rusconi, M. Crippa, D. Giardino, C. Gervasini, D. Milani, A. Cereda, L. Larizza, A. Selicorni, P. Finelli
Adolescents and adults affected by Cornelia de Lange syndrome: a report of 73 Italian patients
2016-06-01 M. Mariani, V. Decimi, L.R. Bettini, S. Maitz, C. Gervasini, M. Masciadri, P. Ajmone, G. Kullman, M. Dinelli, R. Panceri, A. Cereda, A. Selicorni
ANKRD11 variants : KBG syndrome and beyond
2021-05-05 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
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2012-11-25 C. Gervasini, G. Negri, P. Colapietro, F. Forzano, M. Silengo, C. Picinelli, D. Rusconi, L. Basso Ricci, L. Garavelli, ..R. Tenconi, P. Finelli, S. Spena, L. Larizza
Le basi biologiche della vita
2011-05-01 M. Miozzo, A.E.G. Prinetti, S.M. Sirchia, C. Gervasini
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
2016-01-01 I. Parenti, C. Gervasini, J. Pozojevic, L. Graul Neumann, J. Azzollini, D. Braunholz, E. Watrin, K.S. Wendt, A. Cereda, D. Cittaro, G. Gillessen Kaesbach, D. Lazarevic, M. Mariani, S. Russo, R. Werner, P. Krawitz, L. Larizza, A. Selicorni, F.J. Kaiser
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients
2014-06-01 L.R. Bettini, L. Locatelli, M. Mariani, P. Cianci, C. Giussani, F. Canonico, A. Cereda, S. Russo, C. Gervasini, A. Biondi, A. Selicorni
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire
2015-01-01 D. Rusconi, G. Negri, P. Colapietro, C. Picinelli, D. Milani, S. Spena, C. Magnani, M.C. Silengo, L. Sorasio, V. Curtisova, M.L. Cavaliere, P. Prontera, G. Stangoni, G.B. Ferrero, E. Biamino, R. Fischetto, M. Piccione, P. Gasparini, L. Salviati, A. Selicorni, P. Finelli, L. Larizza, C. Gervasini
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021-04-20 C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, V. Massa
Chromatinopathies: a focus on Cornelia de Lange Syndrome
2020-01-01 L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa
CHROMOSOMAL IMBALANCES IN RUBINSTEIN-TAYBI PATIENTS NEGATIVE TO CREBBP MUTATIONAL TEST
2008-05-01 C. Gervasini, R. Ciccone, F. Mottadelli, P. Castronovo, D. Milani, F. Bedeschi, M.L. Uzielli, A. Bentivegna, A. Pilotta, G. Cocchi, G. Scarano, A. Selicorni, O. Zuffardi, L. Larizza
Chromosome 13q14.2-q14.3 and 15q26.2-qter deletions detected by array-CGH in two patients with Cornelia de Lange syndrome
2007-01-01 G. Roversi, C. Gervasini, P. Castronovo, R. Pfundt, S. Russo, D. Milani, A. Selicorni, A. Musio, E.F. Schoenmakers, L. Larizza
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
2015-01-01 G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L.G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
2021-07-01 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
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
2007-08-01 A. Selicorni, S. Russo, C. Gervasini, P. Castronovo, D. Milani, F. Cavalleri, A. Bentivegna, M. Masciadri, A. Domi, MT. Dovizia, C. Sforzini, E. Tarantino, L. Memo, G. Scarano, L. Larizza
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022-01-01 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
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines
2021-11-02 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
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient
2009-05-01 C. Gervasini, M. Masciadri, P. Castronovo, J. Azzollini, D. Milani, A. Cereda, G. Zampino, A. Selicorni, S. Russo, L. Larizza
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
2013-10-02 C. Gervasini, S. Russo, A. Cereda, I. Parenti, M. Masciadri, J. Azzollini, D. Melis, T. Aravena, B. Doray, A. Ferrarini, L. Garavelli, A. Selicorni, L. Larizza