SILIPIGNI, ROSAMARIA

SILIPIGNI, ROSAMARIA  

Universita' degli Studi di MILANO  

Risultati 1 - 20 di 20 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5 1-gen-2020 Milani D.Pansa A.Marchisio P.Silipigni R. + Article (author) -
Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi 1-gen-2015 L. PaganiniL. FontanaR. SilipigniS. FioriA. CeredaS. SirchiaM. MiozzoS. Tabano + Article (author) -
Complex genomic alterations and intellectual disability: an interpretative challenge 1-gen-2020 Silipigni R.Milani D.Tolva G.Monfrini E.Marchisio P. G. + Article (author) -
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 1-ott-2018 Silipigni, RosamariaPompilio, GiulioRossini, Alessandra + Article (author) -
Expression of C19MC miRNAs in HCC associates with stem-cell features and the cancer-testis genes signature 1-giu-2018 Augello, ClaudiaTerrasi, AndreaRossi, GiorgioSilipigni, RosamariaBosari, SilvanoVaira, Valentina + Article (author) -
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 1-gen-2018 P. BenzoniS. LandiC. MuranoM. LangioneB.M. MottaR. SilipigniD. DifrancescoA. Barbuti + Article (author) -
The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity 7-mar-2019 Pesenti CGuarnaccia LTerrasi ASilipigni RFusco NicolaFontana LauraLocatelli MarcoTabano SMiozzo MMarfia G. + Article (author) -
HOXA genes cluster: clinical implications of the smallest deletion 10-apr-2015 L. PezzaniD. MilaniF. ManzoniM. BaccarinR. SilipigniS. Esposito + Article (author) -
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies 1-ott-2020 Persico N.Ischia B.Ronzoni L.Fabietti I.Silipigni R. + Article (author) -
Incidental finding of APC deletion in a child: double trouble or double chance? – a case report 1-feb-2021 Rosina E.Rinaldi B.Silipigni R.Marchisio P. G. + Article (author) -
Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes 1-gen-2022 Rizzuti M.Gagliardi D.Meneri M.Dioni L.Locatelli M.Biella F.Silipigni R.Bollati V.Bresolin N.Comi G. P. + Article (author) -
Mass spectrometry-based assay for the molecular diagnosis of glioma : Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status 22-ago-2017 C. PesentiL. PaganiniL. FontanaE. VenianiS. FerreroS. BosariG. MarfiaR. SilipigniS. TabanoM. Miozzo + Article (author) -
MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion 1-gen-2016 L. FontanaS. TabanoE. BonaparteG. MarfiaC. PesentiC. AugelloR. SilipigniS.M. SirchiaS. BosariM. Miozzo + Article (author) -
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 1-gen-2015 L. RonzoniA. PeronM. BaccarinR. Silipigni + Article (author) -
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 1-mar-2019 Monfrini, EdoardoStraniero, LetiziaBonato, SaraMonzio Compagnoni, GiacomoBordoni, AndreinaRinchetti, PaolaSilipigni, RosamariaRonchi, DarioCorti, StefaniaComi, Giacomo P.Bresolin, NereoDuga, StefanoDi Fonzo, Alessio + Article (author) -
The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors 1-dic-2020 Morotti, AnnamariaTerrasi, AndreaSilipigni, RosamariaFerrero, StefanoCorbetta, SabrinaVaira, Valentina + Article (author) -
Rare interstitial deletion of chromosome 2p11.2p12 : Report of a new patient with developmental delay and unusual clinical features 1-gen-2016 R. SilipigniE. CattaneoM. BaccarinM. Fumagalli + Article (author) -
STAR syndrome plus: The first description of a female patient with the lethal form 1-gen-2017 S. GiangiobbeL. PaganiniS.M. TabanoR. SilipigniL.L. ColomboB.L. CrippaM.R. Miozzo + Article (author) -
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 1-set-2020 Villa R.Fergnani V. G. C.Silipigni R.Cinnante C.Conte G.Fumagalli M.Colombo L.Picciolini O.Scala M.Capra V.Righini A.Romano C. + Article (author) -
Unexpected phenotype in a frameshift mutation of PTCH1 1-gen-2020 BELTRAMI, BENEDETTAPrada E.Tolva G.Silipigni R.Bulfamante G.Gervasini C.Marchisio P.Milani D. + Article (author) -