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Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM. Kozek K, et al. Among authors: pedrazzini m. Circ Genom Precis Med. 2021 Aug;14(4):e003289. doi: 10.1161/CIRCGEN.120.003289. Epub 2021 Jul 26. Circ Genom Precis Med. 2021. PMID: 34309407 Free PMC article.
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Crotti L, Lundquist AL, Insolia R, Pedrazzini M, Ferrandi C, De Ferrari GM, Vicentini A, Yang P, Roden DM, George AL Jr, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Circulation. 2005 Aug 30;112(9):1251-8. doi: 10.1161/CIRCULATIONAHA.105.549071. Epub 2005 Aug 22. Circulation. 2005. PMID: 16116052
Prevalence of the congenital long-QT syndrome.
Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, Gabbarini F, Goulene K, Insolia R, Mannarino S, Mosca F, Nespoli L, Rimini A, Rosati E, Salice P, Spazzolini C. Schwartz PJ, et al. Among authors: pedrazzini m. Circulation. 2009 Nov 3;120(18):1761-7. doi: 10.1161/CIRCULATIONAHA.109.863209. Epub 2009 Oct 19. Circulation. 2009. PMID: 19841298 Free PMC article.
The genetics underlying acquired long QT syndrome: impact for genetic screening.
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. Itoh H, et al. Among authors: pedrazzini m. Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28. Eur Heart J. 2016. PMID: 26715165 Free PMC article.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Pr… See abstract for full author list ➔ Lahrouchi N, et al. Among authors: pedrazzini m. Circulation. 2020 Jul 28;142(4):324-338. doi: 10.1161/CIRCULATIONAHA.120.045956. Epub 2020 May 20. Circulation. 2020. PMID: 32429735 Free PMC article.
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.
Schwartz PJ, Moreno C, Kotta MC, Pedrazzini M, Crotti L, Dagradi F, Castelletti S, Haugaa KH, Denjoy I, Shkolnikova MA, Brink PA, Heradien MJ, Seyen SRM, Spätjens RLHMG, Spazzolini C, Volders PGA. Schwartz PJ, et al. Among authors: pedrazzini m. Eur Heart J. 2021 Dec 7;42(46):4743-4755. doi: 10.1093/eurheartj/ehab582. Eur Heart J. 2021. PMID: 34505893 Free PMC article.
Gene symbol: KCNH2. Disease: Long QT syndrome.
Crotti L, Crotti L, Pedrazzini M, Insolia R, Ferrandi C, Cuoretti A, Gandolfi E, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Hum Genet. 2008 Jun;123(5):540. Hum Genet. 2008. PMID: 20960613 No abstract available.
Gene symbol: KCNQ1. Disease: Long QT syndrome.
Crotti L, Insolia R, Ferrandi C, Pedrazzini M, Cuoretti A, Gandolfi E, Sanzo A, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Hum Genet. 2008 Jun;123(5):541. Hum Genet. 2008. PMID: 20960614 No abstract available.
58 results