RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
JOURNAL OF MEDICAL GENETICS
Collezione AOU Città della Salute di Torino

Items : 5

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth. in Journal of medical genetics / J Med Genet. 2025 Mar 20;62(4):276-280. doi: 10.1136/jmg-2024-110364.

2025
AOU Città della Salute di Torino

Gazzin A; Reynolds G; Massuras S; Luca M; Coppo P; Carli D; Piglionica M; Martino S; Bagnulo R; Ferrero GB; Resta N; Mussa A;

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. in Journal of medical genetics / J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28.

2023
AOU Città della Salute di Torino

D'Oria P; Spaccini L; Iascone M; Brusco A; Casalis Cavalchini GC; Giorgio E; McEntagart M; Homfray T; Jokela M; Lillback V; Di Feo MF; Savarese M; Udd B;

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. in Journal of medical genetics / J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7.

2023
AOU Città della Salute di Torino

Di Giacomo MC; Cereda A; Capurso M; Piscopo C; Accadia M; Morando C; Della Monica M; Memo L; Novelli C; Garavelli L; Cappuccio G; Onesimo R; Zampino G; Selicorni A; Forleo C; Bukvic N; Susca FC; De Luisi A; Piglionica M; Loconte DC; Turchiano A; Maitz S; Melis D; Bartuli A; Ferrero GB; Bagnulo R; Buonuomo PS; Pantaleo A; Ranieri C; et alii...

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;

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. in Journal of medical genetics / J Med Genet. 2021 Aug;58(8):526-533. doi: 10.1136/jmedgenet-2020-106833. Epub 2020 Aug 3.

2021
AOU Città della Salute di Torino

Novelli A; Dallapiccola B; Salviati L; Gai G; Grosso E; Cassina M; Zuccarello D; Pannone L; Slep KC; Agolini E; Morbidoni V; Martinelli S; Trevisson E;