COLOMBO, ELISA ADELE

COLOMBO, ELISA ADELE  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor 2-nov-2015 E.A. ColomboS. CarraL. FontanaE. BrescianiF. CotelliL. Larizza Article (author) -
ANALISI SEMIQUANTITATIVA DELL’ESPRESSIONE DELLE ISOFORME DEL GENE C16orf57 IN UN PANNELLO DI LINEE CELLULARI E TESSUTI ED IN PAZIENTI CON POICHILODERMA CON NEUTROPENIA 25-nov-2012 L. FontanaG. NegriE.A. ColomboL. Larizza Book Part (author) -
Candida albicans Biofilm Inhibition by Two Vaccinium macrocarpon (Cranberry) Urinary Metabolites: 5-(3',4'-{DihydroxyPhenyl})-gamma-Valerolactone and 4-Hydroxybenzoic Acid 13-lug-2021 Emerenziana OttavianoGiovanna BaronLaura FumagalliElisa Adele ColomboAngelica ArtasensiGiancarlo AldiniElisa Borghi + Article (author) -
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype 1-ott-2010 G. RoversiE.A. ColomboL. VolpiL. Larizza + Article (author) -
Clinical utility gene card for: poikiloderma with neutropenia 1-ott-2013 L. LarizzaG. NegriE.A. ColomboL. Volpi + Article (author) -
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines 2-nov-2021 Silvana PileggiElisa Adele ColomboLaura FontanaPatrizia ColapietroAnnamaria MorottiSilvia TabanoMyriam AlcalayCristina GervasiniMonica MiozzoSilvia Maria Sirchia + 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) -
Differential signature of the centrosomal MARK4 isoforms in glioma 1-gen-2011 I. MagnaniC. NovielliL. FontanaS. TabanoD. RovinaD. BauerE.A. ColomboG. TedeschiL. MontiS. BosariL. BelloL. Larizza + Article (author) -
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies 1-gen-2022 Di Fede, ElisabettaGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaPriori, AlbertoGervasini, CristinaMassa, Valentina + 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) -
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms 1-nov-2015 G. NegriE.A. ColomboL. FontanaC. GervasiniL. Larizza + 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) -
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib 1-feb-2017 L. LarizzaE.A. ColomboL. FontanaC. Gervasini + 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-apr-2020 G. BassaniniE. Di FedeE. ColomboC. CeccaraniE. OttavianoV. MassaC. GervasiniE. Borghi Conference Object -
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 -
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) -
MARK4 : a tricky balance of L and S isoforms rules glial differentiation and glioma progression 1-gen-2010 I. MagnaniC. NovielliS. TabanoL. FontanaE.A. ColomboL. MontiL. BelloD. BauerL. Larizza + Article (author) -
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations 23-feb-2012 E.A. ColomboG. NegriC.C.G. GervasiniL. VolpiL. Larizza + Article (author) -