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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Bezzina CR, et al. Among authors: dagradi f. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
Congenital long QT syndrome.
Crotti L, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Orphanet J Rare Dis. 2008. PMID: 18606002 Free PMC article. Review.
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: dagradi f. 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: dagradi f. Hum Genet. 2008 Jun;123(5):541. Hum Genet. 2008. PMID: 20960614 No abstract available.
Gene symbol: KCNH2. Disease: Long QT syndrome.
Crotti L, Pedrazzini M, Insolia R, Ferrandi C, Cuoretti A, Celano G, Gandolfi E, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):541. Hum Genet. 2008. PMID: 20960616 Free article. No abstract available.
Gene symbol: SCN5A. Disease: Brugada syndrome.
Crotti L, Ferrandi C, Pedrazzini M, Insolia R, Cuoretti A, Sanzo A, Dagradi F, De Ferrari GM, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):542. Hum Genet. 2008. PMID: 20960617 No abstract available.
Gene symbol: SCN5A. Disease: Brugada syndrome.
Crotti L, Pedrazzini M, Insolia R, Ferrandi C, Ghidoni A, Sanzo A, Dagradi F, De Ferrari GM, Swartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):542. Hum Genet. 2008. PMID: 20960618 No abstract available.
Gene symbol: KCNQ1. Disease: Long QT syndrome.
Crotti L, Ferrandi C, Pedrazzini M, Insolia R, Cuoretti A, Celano G, Dagradi F, Stramba-Badiale M, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):543. Hum Genet. 2008. PMID: 20960619 No abstract available.
62 results