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51 results

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Page 1
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. Kerkhof J, et al. Among authors: accadia m. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906459 Free article.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: accadia m. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
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: accadia m. 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.
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: accadia m. 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
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Among authors: accadia m. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
51 results