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Page 1
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: fusilli c. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.
Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F. Fusilli C, et al. Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1. Epub 2018 Sep 19. Lancet Neurol. 2018. PMID: 30243861
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
Milone R, Cesario C, Goldoni M, Pasquariello R, Fusilli C, Giovannetti A, Giglio S, Novelli A, Caputo V, Cioni G, Mazza T, Battaglia A, Bernardini L, Battini R. Milone R, et al. Among authors: fusilli c. J Pediatr Genet. 2020 Sep 18;10(4):292-299. doi: 10.1055/s-0040-1716398. eCollection 2021 Dec. J Pediatr Genet. 2020. PMID: 34849274 Free PMC article.
Molecular dynamics recipes for genome research.
Biagini T, Chillemi G, Mazzoccoli G, Grottesi A, Fusilli C, Capocefalo D, Castellana S, Vescovi AL, Mazza T. Biagini T, et al. Among authors: fusilli c. Brief Bioinform. 2018 Sep 28;19(5):853-862. doi: 10.1093/bib/bbx006. Brief Bioinform. 2018. PMID: 28334084
A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma.
Mazzoccoli G, Castellana S, Carella M, Palumbo O, Tiberio C, Fusilli C, Capocefalo D, Biagini T, Mazza T, Lo Muzio L. Mazzoccoli G, et al. Among authors: fusilli c. Oncotarget. 2017 Sep 5;8(62):104913-104927. doi: 10.18632/oncotarget.20645. eCollection 2017 Dec 1. Oncotarget. 2017. PMID: 29285222 Free PMC article.
31 results