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SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Śmigiel R, Bisgaard AM, Massa V, Gervasini C, Moretti A, Cattoni A, Biondi A, Selicorni A. Gibellato E, et al. Among authors: gervasini c. Am J Med Genet A. 2024 Feb 29:e63577. doi: 10.1002/ajmg.a.63577. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421079
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M, Gervasini C, Russo S, Biondi A, Jankovic M, Selicorni A. Cavalleri V, et al. Among authors: gervasini c. Am J Med Genet A. 2016 Jan;170A(1):130-4. doi: 10.1002/ajmg.a.37390. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437745
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Among authors: gervasini c. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
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.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Saettini F, Fazio G, Bonati MT, Moratto D, Massa V, Di Fede E, Castiglioni S, Marchetti D, Chiarini M, Sottini A, Iascone M, Cazzaniga G, Imberti L, Biondi A, Gervasini C, Badolato R. Saettini F, et al. Among authors: gervasini c. Am J Med Genet A. 2022 Jul;188(7):2129-2134. doi: 10.1002/ajmg.a.62719. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266289 Free article.
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
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.
113 results