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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: de maggio i. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: de maggio i. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
Placental pathologic features in obesity.
Beneventi F, Bellingeri C, De Maggio I, Cavagnoli C, Fumanelli S, Ligari E, Fiandrino G, Cesari S, Spinillo A. Beneventi F, et al. Among authors: de maggio i. Placenta. 2023 Dec;144:1-7. doi: 10.1016/j.placenta.2023.10.011. Epub 2023 Oct 30. Placenta. 2023. PMID: 37922644
Placental pathologic features in thyroid autoimmunity.
Spinillo A, De Maggio I, Ruspini B, Bellingeri C, Cavagnoli C, Giannico S, Boschetti A, Magri F, Lovati E, Beneventi F. Spinillo A, et al. Among authors: de maggio i. Placenta. 2021 Sep 1;112:66-72. doi: 10.1016/j.placenta.2021.07.287. Epub 2021 Jul 15. Placenta. 2021. PMID: 34304015
21 results