COLOMBO, ELISA ADELE
COLOMBO, ELISA ADELE
Dipartimento di Scienze della Salute
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
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
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
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome
2021 E. Di Fede, A. Peron, E.A. Colombo, C. Gervasini, A. Vignoli
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
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
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed italian patients with hereditary fibrosis poikiloderma: Insights into cancer predisposition
2021 G. Roversi, E.A. Colombo, I. Magnani, C. Gervasini, G. Maggiore, M. Paradisi, L. Larizza
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
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
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
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
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
Phenotypic overlap of Roberts and Baller-Gerold syndromes in two patients with craniosynostosis, limb reductions, and ESCO2 mutations
2019 E.A. Colombo, H. Mutlu-Albayrak, Y. Shafeghati, M. Balasar, J. Piard, D. Gentilini, A.M. Di Blasio, C. Gervasini, L. Van Maldergem, 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
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome
2018 E.A. Colombo, A. Locatelli, L. Cubells Sánchez, S. Romeo, N.H. Elcioglu, I. Maystadt, A.E. Martínez, A. Sironi, L. Fontana, P. Finelli, C. Gervasini, V. Pecile, 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
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
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
2016 E.A. Colombo, L. Spaccini, L. Volpi, G. Negri, D. Cittaro, D. Lazarevic, S. Zirpoli, A. Farolfi, C. Gervasini, M.V. Cubellis, L. Larizza
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
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