SILIPIGNI, ROSAMARIA
SILIPIGNI, ROSAMARIA
Universita' degli Studi di MILANO
Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
2021 E. Rosina, B. Rinaldi, R. Silipigni, L. Bergamaschi, G. Gattuso, S. Signoroni, S. Guerneri, A. Carnevali, P.G. Marchisio, D. Milani
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5
2020 S. Aleo, D. Milani, A. Pansa, P. Marchisio, S. Guerneri, R. Silipigni
The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors
2020 A. Morotti, I. Forno, C. Verdelli, V. Guarnieri, F. Cetani, A. Terrasi, R. Silipigni, S. Guerneri, V. Andrè, A. Scillitani, L. Vicentini, S. Ferrero, S. Corbetta, V. Vaira
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies
2020 N. Persico, S. Boito, P. Volpe, B. Ischia, M. Gentile, L. Ronzoni, V. De Robertis, I. Fabietti, C. Olivieri, E. Periti, R. Ficarella, R. Silipigni, G. Rembouskos
Complex genomic alterations and intellectual disability: an interpretative challenge
2020 R. Silipigni, D. Milani, G. Tolva, E. Monfrini, A. Giacobbe, P.G. Marchisio, S. Guerneri
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
2020 R. Villa, V.G.C. Fergnani, R. Silipigni, S. Guerneri, C. Cinnante, A. Guala, C. Danesino, E. Scola, G. Conte, M. Fumagalli, S. Gangi, L. Colombo, O. Picciolini, P.F. Ajmone, A. Accogli, F. Madia, E. Tassano, M. Scala, V. Capra, M. Srour, L. Spaccini, A. Righini, D. Greco, L. Castiglia, C. Romano, M.F. Bedeschi
Unexpected phenotype in a frameshift mutation of PTCH1
2020 B. Beltrami, E. Prada, G. Tolva, G. Scuvera, R. Silipigni, D. Graziani, G. Bulfamante, C. Gervasini, P. Marchisio, D. Milani
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy
2019 E. Monfrini, L. Straniero, S. Bonato, G. Monzio Compagnoni, A. Bordoni, R. Dilena, P. Rinchetti, R. Silipigni, D. Ronchi, S. Corti, G.P. Comi, N. Bresolin, S. Duga, A. Di Fonzo
The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity
2019 C. Pesenti, S. Navone, L. Guarnaccia, A. Terrasi, J. Costanza, R. Silipigni, S. Guarneri, N. Fusco, L. Fontana, M. Locatelli, P. Rampini, R. Campanella, S. Tabano, M. Miozzo, G. Marfia
Expression of C19MC miRNAs in HCC associates with stem-cell features and the cancer-testis genes signature
2018 C. Augello, F. Colombo, A. Terrasi, E. Trombetta, M. Maggioni, L. Porretti, G. Rossi, S. Guerneri, R. Silipigni, S. Bosari, V. Vaira
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene
2018 M. Viviana, P. Benzoni, S. Landi, C. Murano, M. Langione, B.M. Motta, B. Serena, R. Silipigni, D.S. Marina, P. Peter P., D. Difrancesco, G. Elisabetta, A. Barbuti, R. Alessandra
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50
2018 B. Ermon, C.B. Volpato, G. Cattelan, R. Silipigni, M. Di Segni, C. Cantaloni, M. Casella, P.P. Pramstaller, G. Pompilio, E. Sommariva, V. Meraviglia, A. Rossini
Mass spectrometry-based assay for the molecular diagnosis of glioma : Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status
2017 C. Pesenti, L. Paganini, L. Fontana, E. Veniani, R. Letterio, S. Ferrero, S. Bosari, M. Maura, G. Marfia, C. Manuela, R. Silipigni, G. Silvana, S. Tabano, M. Miozzo
STAR syndrome plus: The first description of a female patient with the lethal form
2017 B. Maria F., S. Giangiobbe, L. Paganini, S.M. Tabano, R. Silipigni, L.L. Colombo, B.L. Crippa, L. Faustina, G. Silvana, M.R. Miozzo
MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion
2016 L. Fontana, S. Tabano, E. Bonaparte, G. Marfia, C. Pesenti, R. Falcone, C. Augello, N. Carlessi, R. Silipigni, S. Guerneri, R. Campanella, M. Caroli, S.M. Sirchia, S. Bosari, M. Miozzo
Rare interstitial deletion of chromosome 2p11.2p12 : Report of a new patient with developmental delay and unusual clinical features
2016 R. Silipigni, E. Cattaneo, M. Baccarin, M. Fumagalli, M.F. Bedeschi
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
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis
2015 L. Ronzoni, A. Peron, V. Bianchi, M. Baccarin, S. Guerneri, R. Silipigni, F. Lalatta, M.F. Bedeschi
HOXA genes cluster: clinical implications of the smallest deletion
2015 L. Pezzani, D. Milani, F. Manzoni, M. Baccarin, R. Silipigni, S. Guerneri, S. Esposito
Delineating the mosaic trisomy 15 phenotype using a serendipitous mechanism as a clue
2015 F. Natacci, G. Melloni, F. Motta, R. Silipigni, F. Doniselli, T. Rizzuti, M. Frigerio, S. Guerneri