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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
Beltrami B, Cerasani J, Consales A, Villa R, Resta N, Loconte DC, Boito S, Caschera L, Bassi L, Colombo L, Iascone M, Bedeschi MF. Beltrami B, et al. Clin Case Rep. 2022 Aug 22;10(8):e6256. doi: 10.1002/ccr3.6256. eCollection 2022 Aug. Clin Case Rep. 2022. PMID: 36017115 Free PMC article.
Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D. Beltrami B, et al. Mol Genet Genomic Med. 2020 Jan;8(1):e987. doi: 10.1002/mgg3.987. Epub 2019 Oct 2. Mol Genet Genomic Med. 2020. PMID: 31578813 Free PMC article.
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G, De Nicolo A, Catucci I, Manoukian S, Peissel B, Azzollini J, Beltrami B, Bonanni B, Calvello M, Bondavalli D, Pasini B, Vignolo Lutati F, Ogliara P, Zuradelli M, Pensotti V, De Vecchi G, Volorio S, Verderio P, Pizzamiglio S, Matullo G, Aneli S, Birolo G, Zanardi F, Tondini C, Zambelli A, Livraghi L, Franchi M, Radice P, Peterlongo P. Figlioli G, et al. Among authors: beltrami b. Cancers (Basel). 2021 Jan 30;13(3):532. doi: 10.3390/cancers13030532. Cancers (Basel). 2021. PMID: 33573335 Free PMC article.