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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
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
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Di Letto P, De Leonibus C, Palmieri FP, Zanobio M, Scarpato M, Cetrangolo V, Rahman SI, Selicorni A, Mariani M, D'Arrigo S, Ciaccio C, Milani D, Ajmone PF, Morleo M, Spampanato C, Piluso G, Zollino M, L'Erario FF, Greco D, Capra V, Scala M, Romano F, Terrone G, De Falco A, Paolella C, Mastrangelo M, Ricciardi G, Brunetti-Pierri N; Telethon Undiagnosed Diseases Program Study Group; Nigro V, Torella A. Di Letto P, et al. Among authors: ajmone pf. Neurol Genet. 2025 Oct 20;11(6):e200312. doi: 10.1212/NXG.0000000000200312. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127311 Free PMC article.
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
40 results