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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: strisciuglio p. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
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: strisciuglio p. 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
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
Cappuccio G, Bernardo P, Raiano E, Pinelli M, Alagia M, Esposito M, Della Casa R, Strisciuglio P, Brunetti-Pierri N, Bravaccio C. Cappuccio G, et al. Among authors: strisciuglio p. Acta Paediatr. 2019 Jan;108(1):171-172. doi: 10.1111/apa.14576. Epub 2018 Oct 17. Acta Paediatr. 2019. PMID: 30216533 No abstract available.
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A. Pinna V, et al. Among authors: strisciuglio p. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 Free PMC article.
145 results