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In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N. Ranieri C, et al. Among authors: di tommaso s. Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16. Neurogenetics. 2018. PMID: 29549527 Free PMC article.
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N. Cappuccio G, et al. Among authors: di tommaso s. Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1. Eur J Med Genet. 2017. PMID: 28867506
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient.
Ruggieri S, Viggiano L, Annese T, Rubolino C, Gerbino A, De Zio R, Corsi P, Tamma R, Ribatti D, Errede M, Operto F, Margari L, Resta N, Di Tommaso S, Rosati J, Trojano M, Nico B. Ruggieri S, et al. Among authors: di tommaso s. Stem Cell Res Ther. 2019 Jan 15;10(1):29. doi: 10.1186/s13287-018-1125-5. Stem Cell Res Ther. 2019. PMID: 30646960 Free PMC article.
Hypermethioninemia in Campania: Results from 10 years of newborn screening.
Villani GRD, Albano L, Caterino M, Crisci D, Di Tommaso S, Fecarotta S, Fisco MG, Frisso G, Gallo G, Mazzaccara C, Marchese E, Nolano A, Parenti G, Pecce R, Redi A, Salvatore F, Strisciuglio P, Turturo MG, Vallone F, Ruoppolo M. Villani GRD, et al. Among authors: di tommaso s. Mol Genet Metab Rep. 2019 Oct 11;21:100520. doi: 10.1016/j.ymgmr.2019.100520. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641591 Free PMC article.
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B. Alesi V, et al. Among authors: di tommaso s. Am J Med Genet A. 2021 Jan;185(1):242-249. doi: 10.1002/ajmg.a.61937. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098373
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Orlando V, Alesi V, Di Giacomo G, Canestrelli M, Calacci C, Nardone AM, Calvieri G, Liambo MT, Sallicandro E, Di Tommaso S, Di Gregorio MG, Corrado F, Barrano G, Niceta M, Dallapiccola B, Novelli A. Orlando V, et al. Among authors: di tommaso s, di gregorio mg, di giacomo g. Reprod Sci. 2021 Apr;28(4):1142-1149. doi: 10.1007/s43032-020-00419-9. Epub 2021 Jan 6. Reprod Sci. 2021. PMID: 33409881
85 results