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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E. Cascella R, et al. Among authors: colantoni l. Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018. Front Neurol. 2018. PMID: 30546343 Free PMC article.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R. Strafella C, et al. Among authors: colantoni l. Hum Mol Genet. 2019 Dec 1;28(23):3912-3920. doi: 10.1093/hmg/ddz239. Hum Mol Genet. 2019. PMID: 31600781 Free PMC article.
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples.
Caputo V, Bax C, Colantoni L, Peconi C, Termine A, Fabrizio C, Calvino G, Luzzi L, Panunzi GG, Fusco C, Strafella C, Cascella R, Battistini L, Caltagirone C, Salvia A, Sancesario G, Giardina E. Caputo V, et al. Among authors: colantoni l. Int J Infect Dis. 2021 Jul;108:187-189. doi: 10.1016/j.ijid.2021.04.048. Epub 2021 Apr 18. Int J Infect Dis. 2021. PMID: 33878460 Free PMC article.
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.
Strafella C, Caputo V, Bortolani S, Torchia E, Megalizzi D, Trastulli G, Monforte M, Colantoni L, Caltagirone C, Ricci E, Tasca G, Cascella R, Giardina E. Strafella C, et al. Among authors: colantoni l. Front Genet. 2023 Aug 22;14:1235589. doi: 10.3389/fgene.2023.1235589. eCollection 2023. Front Genet. 2023. PMID: 37674478 Free PMC article.
20 results