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Page 1
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
Colombo EA, Elcioglu NH, Graziano C, Farinelli P, Di Fede E, Neri I, Facchini E, Greco M, Gervasini C, Larizza L. Colombo EA, et al. Among authors: gervasini c. J Clin Immunol. 2018 May;38(4):494-502. doi: 10.1007/s10875-018-0508-9. Epub 2018 May 16. J Clin Immunol. 2018. PMID: 29770900
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C. Negri G, et al. Among authors: gervasini c. Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26. Hum Genet. 2019. PMID: 30806792 Free PMC article.
Chromatinopathies: A focus on Cornelia de Lange syndrome.
Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C, Massa V. Avagliano L, et al. Among authors: gervasini c. Clin Genet. 2020 Jan;97(1):3-11. doi: 10.1111/cge.13674. Epub 2019 Nov 24. Clin Genet. 2020. PMID: 31721174 Review.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: gervasini c. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
Rovina D, Castiglioni E, Niro F, Farini A, Belicchi M, Di Fede E, Gervasini C, Paganini S, Di Segni M, Torrente Y, Santoro R, Pompilio G, Gowran A. Rovina D, et al. Among authors: gervasini c. Stem Cell Res. 2020 May;45:101819. doi: 10.1016/j.scr.2020.101819. Epub 2020 Apr 22. Stem Cell Res. 2020. PMID: 32348941 Free PMC article.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Among authors: gervasini c. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S, Cinnante C, Avignone S, Prada E, Scuvera G, Ajmone PF, Selicorni A, Costantino MA, Triulzi F, Marchisio P, Gervasini C, Milani D. Aleo S, et al. Among authors: gervasini c. Front Cell Dev Biol. 2020 Aug 4;8:710. doi: 10.3389/fcell.2020.00710. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850830 Free PMC article.
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
Grazioli P, Parodi C, Mariani M, Bottai D, Di Fede E, Zulueta A, Avagliano L, Cereda A, Tenconi R, Wierzba J, Adami R, Iascone M, Ajmone PF, Vaccari T, Gervasini C, Selicorni A, Massa V. Grazioli P, et al. Among authors: gervasini c. Cell Death Discov. 2021 Feb 17;7(1):34. doi: 10.1038/s41420-021-00414-2. Cell Death Discov. 2021. PMID: 33597506 Free PMC article.
115 results