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Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.
Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Monasky MM, et al. Among authors: benedetti s. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. Europace. 2019. PMID: 31292628
Brugada syndrome genetics is associated with phenotype severity.
Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C. Ciconte G, et al. Among authors: benedetti s. Eur Heart J. 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. Eur Heart J. 2021. PMID: 33221895 Free PMC article.
Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome.
Micaglio E, Monasky MM, Resta N, Bagnulo R, Ciconte G, Giannelli L, Locati ET, Vicedomini G, Borrelli V, Ghiroldi A, Anastasia L, Benedetti S, Di Resta C, Ferrari M, Pappone C. Micaglio E, et al. Among authors: benedetti s. Int J Mol Sci. 2019 Oct 4;20(19):4920. doi: 10.3390/ijms20194920. Int J Mol Sci. 2019. PMID: 31590245 Free PMC article.
SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis.
Micaglio E, Monasky MM, Ciconte G, Vicedomini G, Conti M, Mecarocci V, Giannelli L, Giordano F, Pollina A, Saviano M, Crisà S, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Micaglio E, et al. Among authors: benedetti s. Front Genet. 2019 Feb 15;10:50. doi: 10.3389/fgene.2019.00050. eCollection 2019. Front Genet. 2019. PMID: 30828344 Free PMC article.
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene.
Monasky MM, Micaglio E, Ciconte G, Benedetti S, Di Resta C, Vicedomini G, Borrelli V, Ghiroldi A, Piccoli M, Anastasia L, Santinelli V, Ferrari M, Pappone C. Monasky MM, et al. Among authors: benedetti s. Front Physiol. 2019 May 28;10:666. doi: 10.3389/fphys.2019.00666. eCollection 2019. Front Physiol. 2019. PMID: 31191357 Free PMC article.
Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype.
Micaglio E, Monasky MM, Ciconte G, Vicedomini G, Conti M, Mecarocci V, Giannelli L, Giordano F, Pollina A, Saviano M, Pozzi PR, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Pappone C. Micaglio E, et al. Among authors: benedetti s. Front Genet. 2019 Jun 6;10:547. doi: 10.3389/fgene.2019.00547. eCollection 2019. Front Genet. 2019. PMID: 31231430 Free PMC article.
Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome.
Monasky MM, Micaglio E, Ciconte G, Borrelli V, Giannelli L, Vicedomini G, Ghiroldi A, Anastasia L, Locati ET, Benedetti S, Di Resta C, Casari G, Pappone C. Monasky MM, et al. Among authors: benedetti s. Int J Mol Sci. 2020 Aug 17;21(16):5902. doi: 10.3390/ijms21165902. Int J Mol Sci. 2020. PMID: 32824506 Free PMC article.
297 results