Výsledky vyhledávání - "Valeria Borrelli"

Akademický článek

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

Autor: Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Sara Benedetti, Chiara Di Resta, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Marco Piccoli, Luigi Anastasia, Vincenzo Santinelli, Maurizio Ferrari, Carlo Pappone

Publikováno v: Frontiers in Physiology, Vol 10 (2019)

Brugada syndrome (BrS) is a known cause of sudden cardiac death. The genetic basis of BrS is not well understood, and no one single gene is linked to even a majority of BrS cases. However, mutations in the gene SCN5A are the most common, although the

Externí odkaz: https://doaj.org/article/369969c9aafc49dcaa36e59abf889efc

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Akademický článek

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

In this case series, we report for the first time a family in which the inherited nonsense mutation [c. 3946C > T (p.Arg1316*)] in the SCN5A gene segregates in association with Brugada syndrome (BrS). Moreover, we also report, for the first time, the

Externí odkaz: https://doaj.org/article/cc4522e886ff4e74a1f3698e9ba7eecd

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Local release of metalloproteinases and their inhibitors after a successful revascularisation procedure

Autor: Raffaele Grande, Antonio V. Sterpetti, Francesco Pugliese, Gioia Brachini, Elvira Tartaglia, Paolo Rubino, Valeria Borrelli, Giuseppe D'Ermo, Raffaele Serra, Paolo Sapienza, Andrea Mingoli

Publikováno v: Int Wound J

An altered balance between metalloproteinases (MMPs) and their inhibitor tissue inhibitor of metalloproteinases (TIMPs) may influence the healing process of a minor amputation following a successful vein graft. To speed up this process, negative pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b43300edd00836a5bd64917e7fd0b5
https://doi.org/10.1111/iwj.13249

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Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Autor: Anna Binda, Sara D'Imperio, Dario Melgari, Carlo Pappone, Valeria Borrelli, Predrag Mitrovic, Luigi Anastasia, Sara Benedetti, Ilaria Rivolta, Giuseppe Ciconte, Emanuele Micaglio, Žarko Ćalović, Valerio Mecarocci, Michelle M. Monasky, Andrea Ghiroldi, Giorgio Casari

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 4700, p 4700 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 9

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c35be19c95495e3aee4034b84ac19650
https://www.mdpi.com/1422-0067/22/9/4700

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The electro-anatomical pathway for normal and abnormal ECGs in COVID patients

Autor: Marijke Linschoten, Machteld J Boonstra, Gabriele Vicedomini, Carlo Pappone, Luigi Giannelli, Vincenzo Santinelli, Valerio Mecarocci, Peter M. van Dam, Zarko Calovic, Peter Loh, Rob W Roudijk, Emanuele Micaglio, Giuseppe Ciconte, Michelle M. Monasky, Valeria Borrelli, Emanuela T Locati

Publikováno v: CinC

Patients with COVID-19 frequently have non-typical ECG changes in the QRS and T-wave morphology. The novel CineECG uses using the mean temporal spatial isochrones (mTSI) to relate the activation and recovery pathway to the cardiac anatomy. The aim of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d710c4d8c26a829c2b89c912bd1d555d
https://doi.org/10.22489/cinc.2020.096

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