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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: melis d. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: d addetta ev, melis d. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Melis D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L. Gervasini C, et al. Among authors: melis d. Am J Med Genet A. 2013 Nov;161A(11):2909-19. doi: 10.1002/ajmg.a.36252. Epub 2013 Oct 2. Am J Med Genet A. 2013. PMID: 24124034
164 results