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Genetic Basis of Posterior Urethral Valves Inheritance.
Chiaramonte C, Bommarito D, Zambaiti E, Antona V, Li Voti G. Chiaramonte C, et al. Among authors: antona v. Urology. 2016 Sep;95:175-9. doi: 10.1016/j.urology.2016.05.043. Epub 2016 May 31. Urology. 2016. PMID: 27261184 Review.
Array CGH defined interstitial deletion on chromosome 14: a new case.
Piccione M, Antona V, Scavone V, Malacarne M, Pierluigi M, Grasso M, Corsello G. Piccione M, et al. Among authors: antona v. Eur J Pediatr. 2010 Jul;169(7):845-51. doi: 10.1007/s00431-009-1128-4. Epub 2010 Jan 21. Eur J Pediatr. 2010. PMID: 20087602
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A. Cubellis MV, et al. Among authors: antona v. Clin Epigenetics. 2020 Sep 14;12(1):139. doi: 10.1186/s13148-020-00925-2. Clin Epigenetics. 2020. PMID: 32928291 Free PMC article.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. Among authors: antona v. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
56 results