DI FEDE, ELISABETTA

DI FEDE, ELISABETTA  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autore(i) Tipo File Abstract
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 20-apr-2021 Parodi, ChiaraDi Fede, ElisabettaPeron, AngelaViganò, IlariaGrazioli, PaoloCastiglioni, SilviaGervasini, CristinaVignoli, AglaiaMassa, Valentina + Article (author) -
Chromatinopathies: a focus on Cornelia de Lange Syndrome 1-gen-2020 Avagliano, LauraParenti, IlariaGrazioli, PaoloDi Fede, ElisabettaParodi, ChiaraMariani, MilenaGervasini, CristinaMassa, Valentina + Article (author) -
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 13-mar-2020 Massa, ValentinaColombo, Elisa AdeleDi Fede, ElisabettaGervasini, Cristina + Article (author) -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 8-lug-2020 Di Fede E.Massa V.Ghelma F.Colombo E. A.Gervasini C. + Article (author) -
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 1-mar-2019 Crippa, MilenaDi Fede, ElisabettaColombo, Elisa AdeleFinelli, PalmaGervasini, Cristina + Article (author) -
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C 22-apr-2020 Belicchi M.Di Fede E.Gervasini C.Torrente Y.Pompilio G. + Article (author) -
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype 9-mar-2022 Massa, ValentinaDi Fede, ElisabettaCastiglioni, SilviaGervasini, Cristina + Article (author) -
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants 16-mag-2018 Colombo, Elisa ADI FEDE, ELISABETTAGervasini, CristinaLarizza, Lidia + Article (author) -
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome 31-mar-2021 Di Fede E.Ottaviano E.Grazioli P.Ceccarani C.Galeone A.Parodi C.Colombo E. A.Bassanini G.Milani D.Verduci E.Vaccari T.Massa V.Borghi E.Gervasini C. + Article (author) -
Interplay between Genetic Disorders and Gut Microbial Community: Rubinstein-Taybi Syndrome as a Model 1-gen-2020 G. BassaniniE. Di FedeE. A. ColomboC. CeccaraniE. OttavianoV. MassaC. GervasiniE. Borghi Conference Object -
Interplay between genetic disorders and gut microbial community: Rubinstein-Taybi syndrome as a model 1-apr-2020 G. BassaniniE. Di FedeE. ColomboC. CeccaraniE. OttavianoV. MassaC. GervasiniE. Borghi Conference Object -
KMT2A: Umbrella Gene for Multiple Diseases 15-mar-2022 Castiglioni, SilviaDi Fede, ElisabettaBernardelli, ClaraLettieri, AntonellaParodi, ChiaraGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaOttaviano, EmerenzianaBorghi, ElisaMassa, ValentinaGhelma, FilippoVignoli, AglaiaLesma, ElenaGervasini, Cristina + Article (author) -
Lithium as a positive modulator of defective WNT pathway in Cornelia de Lange Syndrome models 9-nov-2018 Chiara ParodiPaolo GrazioliDaniele BottaiElisabetta Di FedeThomas VaccariCristina GervasiniValentina Massa Conference Object -
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome 17-feb-2021 Grazioli P.Parodi C.Bottai D.Di Fede E.Zulueta A.Avagliano L.Tenconi R.Adami R.Vaccari T.Gervasini C.Massa V. + Article (author) -
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 1-lug-2021 Di Fede E.Peron A.Colombo E. A.Gervasini C.Vignoli A. Article (author) -