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Page 1
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Among authors: ajmone pf. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Electroclinical phenotype in Rubinstein-Taybi syndrome.
Giacobbe A, Ajmone PF, Milani D, Avignone S, Triulzi F, Gervasini C, Menni F, Monti F, Biffi D, Canavesi K, Costantino MA. Giacobbe A, et al. Among authors: ajmone pf. Brain Dev. 2016 Jun;38(6):563-70. doi: 10.1016/j.braindev.2015.12.003. Epub 2016 Feb 8. Brain Dev. 2016. PMID: 26867510
Speech Sound Development in 18-Month-Old Children With Sex Chromosome Trisomies.
Capelli E, Silibello G, Provera A, Dall'Ara F, Ajmone PF, Monti F, Scionti N, Zanchi P, Costantino MA, Vizziello PG, Zampini L. Capelli E, et al. Among authors: ajmone pf. Am J Speech Lang Pathol. 2023 Jan 11;32(1):287-297. doi: 10.1044/2022_AJSLP-22-00118. Epub 2023 Jan 5. Am J Speech Lang Pathol. 2023. PMID: 36603546
Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.
Milani D, Sabatini C, Manzoni FM, Ajmone PF, Rigamonti C, Malacarne M, Pierluigi M, Cavani S, Costantino MA. Milani D, et al. Among authors: ajmone pf. Congenit Anom (Kyoto). 2015 May;55(2):107-11. doi: 10.1111/cga.12080. Congenit Anom (Kyoto). 2015. PMID: 25174267
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: ajmone pf. 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.
25 results