CASTRONOVO, PAOLA
CASTRONOVO, PAOLA
DIPARTIMENTO DI BIOLOGIA E GENETICA PER LE SCIENZE MEDICHE (attivo dal 01/11/1983 al 26/04/2012)
Huntingtin gene CAG repeat size affects autism risk: Family-based and case–control association study
2020 I.S. Piras, C. Picinelli, R. Iennaco, M. Baccarin, P. Castronovo, P. Tomaiuolo, F. Cucinotta, A. Ricciardello, L. Turriziani, L. Nanetti, C. Mariotti, C. Gellera, C. Lintas, R. Sacco, C. Zuccato, E. Cattaneo, A.M. Persico
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability
2016 S. Moncini, P. Castronovo, A. Murgia, S. Russo, M.F. Bedeschi, M. Lunghi, A. Selicorni, M.T. Bonati, P. Riva, M. Venturin
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing
2013 S. Moncini, M.F. Bedeschi, P. Castronovo, M. Crippa, M. Calvello, R.R. Garghentino, G. Scuvera, P. Finelli, M. Venturin
Extensive mutational analysis of CDK5 and CDK5R1 in patients with non-syndromic mental retardation reveals novel variants in CDK5R1 3’-UTR
2012 S. Moncini, P. Castronovo, A. Murgia, S. Russo, M.F. Bedeschi, P. Riva, M. Venturin
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis
2010 C.C.G. Gervasini, F. Mottadelli, R. Ciccone, P. Castronovo, D. Milani, G. Scarano, M.F. Bedeschi, S. Belli, A. Pilotta, A. Selicorni, O. Zuffardi, L. Larizza
Sindrome di Rubinstein Taybi: CREBBP e oltre
2009 F. Mottadelli, C. Gervasini, P. Castronovo, S. Sirchia, D. Milani, R. Ciccone, O. Zuffardi, A. Selicorni, L. Larizza
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
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’ clinica
2009 P. Castronovo, A. Delahaye Duriez, C. Gervasini, J. Azzollini, F. Minier, S. Russo, M. Masciadri, A. Selicorni, A. Verloes, 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
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
2009 P. Castronovo, C. Gervasini, A. Cereda, M. Masciadri, D. Milani, S. Russo, A. Selicorni, L. Larizza
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
2008 C. Gervasini, R. Pfundt, P. Castronovo, S. Russo, G. Roversi, M. Masciadri, D. Milani, G. Zampino, A. Selicorni, E. Schoenmakers, L. Larizza
CHROMOSOMAL IMBALANCES IN RUBINSTEIN-TAYBI PATIENTS NEGATIVE TO CREBBP MUTATIONAL TEST
2008 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
Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
2007 F. Lalatta, S. Russo, B. Gentilin, L. Spaccini, C. Boschetto, F. Cavalleri, M. Masciadri, C. Gervasini, A. Bentivegna, P. Castronovo, L. Larizza
High frequency of mosaic CREBBP deletions in RSTS patients and mapping of somatic and germline breakpoints
2007 C. Gervasini, P. Castronovo, A. Bentivegna, F. Mottadelli, E. Lucci Cordisco, A. Pinto, M.L. Uzielli, F. Faravelli, A. Pessagno, A. Selicorni, R. Tenconi, G. Neri, 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 G. Roversi, C. Gervasini, P. Castronovo, R. Pfundt, S. Russo, D. Milani, A. Selicorni, A. Musio, E.F. Schoenmakers, L. Larizza
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints
2007 C. Gervasini, P. Castronovo, A. Bentivegna, F. Mottadelli, F. Faravelli, M.L. Giovannucci Uzielli, A. Pessagno, E. Lucci Cordisco, A.M. Pinto, L. Salviati, A. Selicorni, R. Tenconi, G. Neri, L. Larizza
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
2007 A. Selicorni, S. Russo, C. Gervasini, P. Castronovo, D. Milani, F. Cavalleri, A. Bentivegna, M. Masciadri, A. Domi, M.T. Dovizia, C. Sforzini, E. Tarantino, L. Memo, G. Scarano, L. Larizza
Rubinstein-Taybi syndrome : spectrum of CREBBP mutations in Italian patients.
2006 A. Bentivegna, D. Milani, C. Gervasini, P. Castronovo, F. Mottadelli, S. Manzini, P. Colapietro, L. Giordano, F. Atzeri, M.T. Divizia, M.L. Giovannucci Uzielli, G.i. Neri, M.F. Bedeschi, F. Faravelli, A. Selicorni, L. Larizza