DI FEDE, ELISABETTA

DI FEDE, ELISABETTA  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autori Tipo File Abstract
MOLECULAR STUDY OF CHROMATINOPATHIES: THE CASE OF RUBINSTEIN-TAYBI AND RETT SYNDROMES 2023 DI FEDE, ELISABETTA Doctoral Thesis -
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies 2022 Di Fede, ElisabettaGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaPriori, AlbertoGervasini, CristinaMassa, Valentina + Article (author) -
KMT2A : umbrella gene for multiple diseases 2022 Castiglioni, SilviaDi Fede, ElisabettaBernardelli, ClaraLettieri, AntonellaParodi, ChiaraGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaOttaviano, EmerenzianaBorghi, ElisaMassa, ValentinaGhelma, FilippoVignoli, AglaiaLesma, ElenaGervasini, Cristina + Article (author) -
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype 2022 Massa, ValentinaDi Fede, ElisabettaCastiglioni, SilviaGervasini, Cristina + Article (author) -
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome 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) -
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome 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 2021 Di Fede E.Peron A.Colombo E. A.Gervasini C.Vignoli A. Article (author) -
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 2021 Parodi, ChiaraDi Fede, ElisabettaPeron, AngelaViganò, IlariaGrazioli, PaoloCastiglioni, SilviaGervasini, CristinaVignoli, AglaiaMassa, Valentina + Article (author) -
Interplay between Genetic Disorders and Gut Microbial Community: Rubinstein-Taybi Syndrome as a Model 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 2020 G. BassaniniE. Di FedeE. ColomboC. CeccaraniE. OttavianoV. MassaC. GervasiniE. Borghi Conference Object -
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C 2020 Belicchi M.Di Fede E.Gervasini C.Torrente Y.Pompilio G. + Article (author) -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 2020 Di Fede E.Massa V.Ghelma F.Colombo E. A.Gervasini C. + Article (author) -
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 2020 Massa, ValentinaColombo, Elisa AdeleDi Fede, ElisabettaGervasini, Cristina + Article (author) -
Chromatinopathies: a focus on Cornelia de Lange Syndrome 2020 Avagliano, LauraParenti, IlariaGrazioli, PaoloDi Fede, ElisabettaParodi, ChiaraMariani, MilenaGervasini, CristinaMassa, Valentina + Article (author) -
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 2019 Crippa, MilenaDi Fede, ElisabettaColombo, Elisa AdeleFinelli, PalmaGervasini, Cristina + Article (author) -
Lithium as a positive modulator of defective WNT pathway in Cornelia de Lange Syndrome models 2018 Chiara ParodiPaolo GrazioliDaniele BottaiElisabetta Di FedeThomas VaccariCristina GervasiniValentina Massa Conference Object -
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants 2018 Colombo, Elisa ADI FEDE, ELISABETTAGervasini, CristinaLarizza, Lidia + Article (author) -