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Sfoglia per AUTORE
RADIO FC
Collezione AOU Città della Salute di Torino

Items : 4

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. in Journal of medical genetics / J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.

2022
AOU Città della Salute di Torino

Ferrero GB; Buxbaum JD; Dimartino P; De Rubeis S; Colson C; Ranguin K; Giuffrè M; Antona V; Radio FC; Giorgio E; Carli D; Prota V; Pippucci T; Bruselles A; Ciolfi A; Arauz-Garofalo G; Vilaseca M; Gay M; Andreoli C; Sanchiz-Calvo M; Pavinato L; Villamor-Payà M; Tartaglia M; Martinelli S; Stracker TH; Brusco A;

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.

2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10.

2021
AOU Città della Salute di Torino

Giancotti A; Mattina T; Papi L; Damante G; Mazza T; Radio FC; Pantaleoni F; Versacci P; Mastromoro G; Naretto VG; Grosso E; Zonta A; Donati I; Di Marco C; Romagnoli M; Mangiameli D; Tortora G; Sirchia F; Marozza A; Andreucci E; D'Ambrosio V; Corno S; Daniele P; Pinna V; Di Giosaffatte N; Scott A; Pizzuti A; Laberge AM; Tartaglia M; et alii...

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations. in Human mutation / Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.

2019
AOU Città della Salute di Torino

Carli D; Giorgio E; Pantaleoni F; Bruselles A; Barresi S; Riberi E; Licciardi F; Gazzin A; Baldassarre G; Pizzi S; Niceta M; Radio FC; Molinatto C; Montin D; Calvo PL; Ciolfi A; Fleischer N; Ferrero GB; Brusco A; Tartaglia M;