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Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
Cattelani C, Battistella I, Di Leva F, Fioravanti G, Benedicenti F, Stanzial F, Schwienbacher C, Fanelli F, Pramstaller PP, Hicks AA, Conti L, Corti C. Cattelani C, et al. Among authors: stanzial f. Int J Mol Sci. 2022 Oct 28;23(21):13095. doi: 10.3390/ijms232113095. Int J Mol Sci. 2022. PMID: 36361881 Free PMC article.
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: stanzial f. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A. Nicchia E, et al. Among authors: stanzial f. Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 26033879
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O. Novara F, et al. Among authors: stanzial f. Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422132 Free PMC article.
"Spot diagnosis" or "spot the diagnosis"?
Benedicenti F, Stanzial F, Wischmeijer A, Inzana F. Benedicenti F, et al. Among authors: stanzial f. J Neurol Sci. 2017 Aug 15;379:335-336. doi: 10.1016/j.jns.2017.05.063. Epub 2017 May 30. J Neurol Sci. 2017. PMID: 28583319 No abstract available.
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP. Domingues FS, et al. Among authors: stanzial f. Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23. Seizure. 2019. PMID: 30818181 Free article.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: stanzial f. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
45 results