COLOMBO, ELISA ADELE
COLOMBO, ELISA ADELE
Dipartimento di Scienze della Salute
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor
2015 E.A. Colombo, S. Carra, L. Fontana, E. Bresciani, F. Cotelli, L. Larizza
ANALISI SEMIQUANTITATIVA DELL’ESPRESSIONE DELLE ISOFORME DEL GENE C16orf57 IN UN PANNELLO DI LINEE CELLULARI E TESSUTI ED IN PAZIENTI CON POICHILODERMA CON NEUTROPENIA
2012 L. Fontana, G. Negri, E.A. Colombo, L. Larizza
Candida albicans Biofilm Inhibition by Two Vaccinium macrocarpon (Cranberry) Urinary Metabolites: 5-(3',4'-{DihydroxyPhenyl})-gamma-Valerolactone and 4-Hydroxybenzoic Acid
2021 E. Ottaviano, G. Baron, L. Fumagalli, J. Leite, E.A. Colombo, A. Artasensi, G. Aldini, E. Borghi
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype
2010 D. Concolino, G. Roversi, G.L. Muzzi, S. Sestito, E.A. Colombo, L. Volpi, L. Larizza, P. Strisciuglio
Clinical utility gene card for: poikiloderma with neutropenia
2013 L. Larizza, G. Negri, E.A. Colombo, L. Volpi, Y. Sznajer
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines
2021 S. Pileggi, M. La Vecchia, E.A. Colombo, L. Fontana, P. Colapietro, D. Rovina, A. Morotti, S.M. Tabano, G. Porta, M. Alcalay, C.C.G. Gervasini, M.R. Miozzo, S.M. Sirchia
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
2020 G.M. Squeo, B. Augello, V. Massa, D. Milani, E.A. Colombo, T. Mazza, S. Castellana, M. Piccione, S. Maitz, A. Petracca, P. Prontera, M. Accadia, M. Della Monica, M.C. Di Giacomo, D. Melis, A. Selicorni, S. Giglio, R. Fischetto, E. Di Fede, N. Malerba, M. Russo, M. Castori, C. Gervasini, G. Merla
Differential signature of the centrosomal MARK4 isoforms in glioma
2011 I. Magnani, C. Novielli, L. Fontana, S. Tabano, D. Rovina, R.F. Moroni, D. Bauer, S. Mazzoleni, E.A. Colombo, G. Tedeschi, L. Monti, G. Porta, S. Bosari, C. Frassoni, R. Galli, L. Bello, L. Larizza
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies
2022 E. Di Fede, P. Grazioli, A. Lettieri, C. Parodi, S. Castiglioni, E. Taci, E.A. Colombo, S. Ancona, A. Priori, C. Gervasini, V. Massa
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
2020 E. Di Fede, V. Massa, B. Augello, G. Squeo, E. Scarano, A.M. Perri, R. Fischetto, F.A. Causio, G. Zampino, M. Piccione, E. Curridori, T. Mazza, S. Castellana, L. Larizza, F. Ghelma, E.A. Colombo, M.C. Gandini, M. Castori, G. Merla, D. Milani, C. Gervasini
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
2015 G. Negri, B. Crescenzi, E.A. Colombo, L. Fontana, G. Barba, F. Arcioni, C. Gervasini, C. Mecucci, L. Larizza
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders
2019 G. Negri, P. Magini, D. Milani, M. Crippa, E. Biamino, M. Piccione, S. Sotgiu, C. Perrìa, G. Vitiello, M. Frontali, A. Boni, E. Di Fede, M.C. Gandini, E.A. Colombo, M.J. Bamshad, D.A. Nickerson, J.D. Smith, I. Loddo, P. Finelli, M. Seri, T. Pippucci, L. Larizza, C. Gervasini
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib
2017 D. Gupta, L. Chandrashekar, L. Larizza, E.A. Colombo, L. Fontana, C. Gervasini, D.M. Thappa, M. Rajappa, K.S. Rajendiran, G.S. Sreenath, V. Kate
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
2023 E.A. Colombo, M. Valiante, M. Uggeri, A. Orro, S. Majore, P. Grammatico, D. Gentilini, P. Finelli, C.C.G. Gervasini, P. D’Ursi, L. Larizza
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 E.A. Colombo, N.H. Elcioglu, C. Graziano, P. Farinelli, E. DI FEDE, I. Neri, E. Facchini, M. Greco, C. Gervasini, L. Larizza
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome
2021 E. Di Fede, E. Ottaviano, P. Grazioli, C. Ceccarani, A. Galeone, C. Parodi, E.A. Colombo, G. Bassanini, G. Fazio, M. Severgnini, D. Milani, E. Verduci, T. Vaccari, V. Massa, E. Borghi, C. Gervasini
Interplay between genetic disorders and gut microbial community: Rubinstein-Taybi syndrome as a model
2020 G. Bassanini, E. Di Fede, E. Colombo, C. Ceccarani, E. Ottaviano, V. Massa, C. Gervasini, E. Borghi
Interplay between Genetic Disorders and Gut Microbial Community: Rubinstein-Taybi Syndrome as a Model
2020 G. Bassanini, E. Di Fede, E.A. Colombo, C. Ceccarani, E. Ottaviano, V. Massa, C. Gervasini, E. Borghi
KMT2A : umbrella gene for multiple diseases
2022 S. Castiglioni, E. Di Fede, C. Bernardelli, A. Lettieri, C. Parodi, P. Grazioli, E.A. Colombo, S. Ancona, D. Milani, E. Ottaviano, E. Borghi, V. Massa, F. Ghelma, A. Vignoli, E. Lesma, C. Gervasini
MARK4 : a tricky balance of L and S isoforms rules glial differentiation and glioma progression
2010 I. Magnani, C. Novielli, S. Tabano, L. Fontana, R.F. Moroni, E.A. Colombo, L. Monti, L. Bello, D. Bauer, S. Mazzoleni, R. Galli, G. Porta, C. Frassoni, L. Larizza