MASCIADRI, MAURA
MASCIADRI, MAURA
Universita' degli Studi di MILANO
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
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
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region
2011 P. Finelli, M. Crippa, E. Valtorta, C. Castronovo, M. Masciadri, S. Russo, M. Recalcati, D. Rusconi, D. Giardino, M. Bonati, F. Natacci, P. Castelluccio, 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
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
2012 P. Finelli, S. Sirchia, M. Masciadri, M. Crippa, M. Recalcati, D. Rusconi, D. Giardino, L. Monti, F. Cogliati, F. Faravelli, F. Natacci, L. Zoccante, B. Bernardina, S. Russo, L. Larizza
MeCP2 investigation in a wide cohort of italian Rett patients and array methylation assay in six cases sharing the 1164_1027del44 MeCP2 mutation
2009 S. Russo, R. Lupi, M. Marchi, M. Masciadri, I. Moroni, L. Angelini, L. Giordano, P. Veggiotti, F. Cogliati, M.T. Bonati, L. Larizza
Minor components of olive oil affect the expression of pro-atherogenic molecules and cGMP-dependent PDE5 activity
2004 M. Dell'Agli, M. Masciadri, N. Mitro, M. Crestani, E. De Fabiani, G.V. Galli, L. Mussoni, E. Tremoli, E. Bosisio, D. Caruso
Minor components of olive oil modulate proatherogenic adhesion molecules involved in endothelial activation
2006 M. DELL'AGLI, R. FAGNANI, N. MITRO, S. SCURATI, M. MASCIADRI, L. MUSSONI, G.V. GALLI, E. BOSISIO, M. CRESTANI, E. DE FABIANI, E. TREMOLI, D. CARUSO
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
Olive oil phenols: antioxidant activity and beyond
2004 M. Dell'Agli, M. Masciadri, N. Mitro, M. Crestani, E. De Fabiani, G.V. Galli, E. Bosisio, D. Caruso
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
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes
2019 F. Cogliati, V. Giorgini, M. Masciadri, M.T. Bonati, M. Marchi, I. Cracco, D. Gentilini, A. Peron, M.N. Savini, L. Spaccini, B. Scelsa, S. Maitz, E. Veneselli, G. Prato, M. Pintaudi, I. Moroni, A. Vignoli, L. Larizza, S. Russo
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
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
Prevalence of growth retardation and medical complications in a large cohort of Cornelia de Lange syndrome patients and their relationships with genotype
2009 A. Cereda, A. Passarini, M. Masciadri, C. Gervasini, M. Cerutti, S. Luzzani, F. Macchini, F. Valadè, E. Vismara, A. Selicorni
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
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
2020 M. Crippa, I. Bestetti, S. Maitz, K. Weiss, A. Spano, M. Masciadri, S. Smithson, L. Larizza, K. Low, L. Cohen, P. Finelli
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL
2009 M. Crippa, D. Rusconi, C. Castronovo, M. Masciadri, S. Russo, C. Gervasini, D. Giardino, A. Selicorni, P.G. Flora, L. Memo, L. Larizza, P. Finelli
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