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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: rigamonti c. 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.
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: rigamonti c. Congenit Anom (Kyoto). 2015 May;55(2):107-11. doi: 10.1111/cga.12080. Congenit Anom (Kyoto). 2015. PMID: 25174267
Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.
Silibello G, Vizziello P, Gallucci M, Selicorni A, Milani D, Ajmone PF, Rigamonti C, De Stefano S, Bedeschi MF, Lalatta F. Silibello G, et al. Among authors: rigamonti c. Ital J Pediatr. 2016 Aug 31;42(1):76. doi: 10.1186/s13052-016-0285-0. Ital J Pediatr. 2016. PMID: 27576488 Free PMC article.
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
Ajmone PF, Allegri B, Cereda A, Michelini G, Dall'Ara F, Mariani M, Rigamonti C, Selicorni A, Vizziello P, Costantino MA. Ajmone PF, et al. Among authors: rigamonti c. J Autism Dev Disord. 2022 Nov;52(11):4763-4773. doi: 10.1007/s10803-021-05343-8. Epub 2021 Nov 9. J Autism Dev Disord. 2022. PMID: 34751866
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.
Ajmone PF, Giani L, Allegri B, Michelini G, Dall'Ara F, Rigamonti C, Monti F, Vizziello PG, Selicorni A, Milani D, Scaini S, Costantino A. Ajmone PF, et al. Among authors: rigamonti c. Am J Med Genet A. 2023 Feb;191(2):424-436. doi: 10.1002/ajmg.a.63039. Epub 2022 Nov 14. Am J Med Genet A. 2023. PMID: 36373849 Free PMC article.
111 results