CEREDA, ANNA
CEREDA, ANNA
Universita' degli Studi di MILANO
A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9
2019 R. Indellicato, R. Domenighini, N. Malagolini, A. Cereda, D. Mamoli, L. Pezzani, M. Iascone, F. Dall'Olio, M. Trinchera
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
2016 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
Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi
2015 L. Paganini, N. Carlessi, L. Fontana, R. Silipigni, S. Motta, S. Fiori, S. Guerneri, F. Lalatta, A. Cereda, S. Sirchia, M. Miozzo, S. Tabano
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
2014 I. Parenti, D. Rovina, M. Masciadri, A. Cereda, J. Azzollini, C. Picinelli, G. Limongelli, P. Finelli, A. Selicorni, S. Russo, C. Gervasini, L. Larizza
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients
2014 L.R. Bettini, L. Locatelli, M. Mariani, P. Cianci, C. Giussani, F. Canonico, A. Cereda, S. Russo, C. Gervasini, A. Biondi, A. Selicorni
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
2013 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
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
2012 S. Russo, M. Masciadri, C. Gervasini, J. Azzollini, A. Cereda, G. Zampino, O. Haas, G. Scarano, M. Di Rocco, P. Finelli, R. Tenconi, A. Selicorni, L. Larizza
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
2012 L. Ballarati, A. Cereda, R. Caselli, S. Maitz, S. Russo, A. Selicorni, L. Larizza, D. Giardino
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
2011 L. Ballarati, A. Cereda, R. Caselli, A. Selicorni, M.P. Recalcati, S. Maitz, P. Finelli, L. Larizza, D. Giardino
Cornelia de Lange syndrome : extending the physical and psychological phenotype
2010 C. Oliver, M.F. Bedeschi, N. Blagowidow, C.S. Carrico, A. Cereda, D.R. Fitzpatrick, C. Gervasini, G.M. Griffith, A.D. Kline, P. Marchisio, J. Moss, F.J. Ramos, A. Selicorni, P. Tunnicliffe, J. Wierzba, R.C. Hennekam
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q
2009 C. Castronovo, D. Rusconi, M. Crippa, C. Gervasini, D. Milani, A. Cereda, D. Giardino, L. Larizza, A. Selicorni, P. Finelli
Molecular characterization of a large cohort of Cornelia de Lange Syndrome Italian patients
2009 C. Gervasini, M. Masciadri, P. Castronovo, J. Azzollini, D. Milani, A. Cereda, G. Zampino, A. Selicorni, S. Russo, L. Larizza
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient
2009 C. Gervasini, M. Masciadri, P. Castronovo, J. Azzollini, D. Milani, A. Cereda, G. Zampino, A. Selicorni, S. Russo, L. Larizza
Sindrome di Cornelia de Lange: analisi mutazionale dei geni NIPBL e SMC1L1 nella flow-chart diagnostico-molecolare
2009 M. Masciadri, C. Gervasini, P. Castronovo, D. Milani, A. Cereda, G. Zampino, M. Di Rocco, A. Selicorni, S. Russo, L. Larizza