COLOMBO, ELISA ADELE

COLOMBO, ELISA ADELE  

Dipartimento di Scienze della Salute  

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Risultati 1 - 20 di 33 (tempo di esecuzione: 0.013 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling 2023 Elisa Adele ColomboPalma FinelliCristina Gervasini + 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) -
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies 2022 Di Fede, ElisabettaGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaPriori, AlbertoGervasini, CristinaMassa, Valentina + 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) -
Candida albicans Biofilm Inhibition by Two Vaccinium macrocarpon (Cranberry) Urinary Metabolites: 5-(3',4'-{DihydroxyPhenyl})-gamma-Valerolactone and 4-Hydroxybenzoic Acid 2021 Emerenziana OttavianoGiovanna BaronLaura FumagalliElisa Adele ColomboAngelica ArtasensiGiancarlo AldiniElisa Borghi + 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) -
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed italian patients with hereditary fibrosis poikiloderma: Insights into cancer predisposition 2021 Colombo E. A.Gervasini C. + 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 2021 Silvana PileggiElisa Adele ColomboLaura FontanaPatrizia ColapietroAnnamaria MorottiSilvia TabanoMyriam AlcalayCristina GervasiniMonica MiozzoSilvia Maria Sirchia + 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) -
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 -
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) -
Phenotypic overlap of Roberts and Baller-Gerold syndromes in two patients with craniosynostosis, limb reductions, and ESCO2 mutations 2019 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 2019 Crippa, MilenaDi Fede, ElisabettaColombo, Elisa AdeleFinelli, PalmaGervasini, Cristina + Article (author) -
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 2018 E. A. ColomboA. LocatelliA. SironiL. FontanaP. FinelliC. GervasiniL. Larizza + 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 2018 Colombo, Elisa ADI FEDE, ELISABETTAGervasini, CristinaLarizza, Lidia + Article (author) -
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib 2017 L. LarizzaE.A. ColomboL. FontanaC. Gervasini + Article (author) -
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 2016 E.A. ColomboL. VolpiG. NegriC. Gervasini + Article (author) -
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor 2015 E.A. ColomboS. CarraL. FontanaE. BrescianiF. CotelliL. Larizza Article (author) -
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms 2015 G. NegriE.A. ColomboL. FontanaC. GervasiniL. Larizza + Article (author) -