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Page 1
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, Villani A, Minervino D, Martinelli D, Rizzo C, Boenzi S, Panfili FM, Buonuomo PS, Macchiaiolo M, Bartuli A, Novelli A. Cocciadiferro D, et al. Among authors: petrizzelli f. Front Genet. 2024 Jan 4;14:1307934. doi: 10.3389/fgene.2023.1307934. eCollection 2023. Front Genet. 2024. PMID: 38239854 Free PMC article.
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Kalia M, Miotto M, Ness D, Opie-Martin S, Spargo TP, Di Rienzo L, Biagini T, Petrizzelli F, Al Khleifat A, Kabiljo R; Project MinE ALS Sequencing Consortium; SOD1-ALS clinical and genetic data collection group; Mazza T, Ruocco G, Milanetti E, Dobson RJ, Al-Chalabi A, Iacoangeli A. Kalia M, et al. Among authors: petrizzelli f. Comput Struct Biotechnol J. 2023 Sep 17;21:5296-5308. doi: 10.1016/j.csbj.2023.09.016. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 37954145 Free PMC article.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: petrizzelli f. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: petrizzelli f. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma.
Biagini T, Petrizzelli F, Bianco SD, Liorni N, Napoli A, Castellana S, Luigi Vescovi A, Carella M, Caputo V, Mazza T. Biagini T, et al. Among authors: petrizzelli f. Comput Struct Biotechnol J. 2022 Jun 18;20:3151-3160. doi: 10.1016/j.csbj.2022.06.041. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 35782738 Free PMC article.
RhythmicDB: A Database of Predicted Multi-Frequency Rhythmic Transcripts.
Castellana S, Biagini T, Petrizzelli F, Cabibbo A, Mazzoccoli G, Mazza T. Castellana S, et al. Among authors: petrizzelli f. Front Genet. 2022 Jun 14;13:882044. doi: 10.3389/fgene.2022.882044. eCollection 2022. Front Genet. 2022. PMID: 35774515 Free PMC article.
Disease spreading modeling and analysis: a survey.
Hiram Guzzi P, Petrizzelli F, Mazza T. Hiram Guzzi P, et al. Among authors: petrizzelli f. Brief Bioinform. 2022 Jul 18;23(4):bbac230. doi: 10.1093/bib/bbac230. Brief Bioinform. 2022. PMID: 35692095
20 results