Sfoglia per Autore
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
Lithium as a positive modulator of defective WNT pathway in Cornelia de Lange Syndrome models
2018 C. Parodi, P. Grazioli, D. Bottai, E. DI FEDE, T. Vaccari, C.C.G. Gervasini, V. Massa
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
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
Chromatinopathies: a focus on Cornelia de Lange Syndrome
2020 L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa
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
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
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C
2020 D. Rovina, E. Castiglioni, F. Niro, A. Farini, M. Belicchi, E. Di Fede, C. Gervasini, S. Paganini, M. Di Segni, Y. Torrente, R. Santoro, G. Pompilio, A. Gowran
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
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
2021 P. Grazioli, C. Parodi, M. Mariani, D. Bottai, E. Di Fede, A. Zulueta, L. Avagliano, A. Cereda, R. Tenconi, J. Wierzba, R. Adami, M. Iascone, P.F. Ajmone, T. Vaccari, C. Gervasini, A. Selicorni, V. Massa
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
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021 C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, 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
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
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
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
2022 F. Saettini, G. Fazio, M.T. Bonati, D. Moratto, V. Massa, E. Di Fede, S. Castiglioni, D. Marchetti, M. Chiarini, A. Sottini, M. Iascone, G. Cazzaniga, L. Imberti, A. Biondi, C. Gervasini, R. Badolato
MOLECULAR STUDY OF CHROMATINOPATHIES: THE CASE OF RUBINSTEIN-TAYBI AND RETT SYNDROMES
2023 E. DI FEDE
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