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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: giuffre m. 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.
Epidemiological study of nonsyndromic hearing loss in Sicilian newborns.
Niceta M, Fabiano C, Sammarco P, Piccione M, Antona V, Giuffrè M, Corsello G. Niceta M, et al. Among authors: giuffre m. Am J Med Genet A. 2007 Jul 15;143A(14):1666-70. doi: 10.1002/ajmg.a.31836. Am J Med Genet A. 2007. PMID: 17568408 No abstract available.
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M. Corsello G, et al. Among authors: giuffre m. Am J Med Genet A. 2015 Dec;167A(12):3130-8. doi: 10.1002/ajmg.a.37293. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333487
Recognizable neonatal clinical features of aplasia cutis congenita.
Schierz IAM, Giuffrè M, Del Vecchio A, Antona V, Corsello G, Piro E. Schierz IAM, et al. Among authors: giuffre m. Ital J Pediatr. 2020 Feb 18;46(1):25. doi: 10.1186/s13052-020-0789-5. Ital J Pediatr. 2020. PMID: 32070410 Free PMC article.
290 results