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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium; Jamshidi Y. Behr ER, et al. Among authors: berthet m. Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17. Cardiovasc Res. 2015. PMID: 25691538 Free PMC article.
MOG1: a new susceptibility gene for Brugada syndrome.
Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, Dilanian G, Martins RP, Fressart V, Berthet M, Schott JJ, Leenhardt A, Probst V, Le Marec H, Hainque B, Coulombe A, Hatem SN, Guicheney P. Kattygnarath D, et al. Among authors: berthet m. Circ Cardiovasc Genet. 2011 Jun;4(3):261-8. doi: 10.1161/CIRCGENETICS.110.959130. Epub 2011 Mar 29. Circ Cardiovasc Genet. 2011. PMID: 21447824
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, Ohno S, Fressart V, Monti MC, Crocamo C, Pedrazzini M, Dagradi F, Vicentini A, Klug D, Brink PA, Goosen A, Swan H, Toivonen L, Lahtinen AM, Kontula K, Shimizu W, Horie M, George AL Jr, Trégouët DA, Guicheney P, Schwartz PJ. Duchatelet S, et al. Among authors: berthet m. Circ Cardiovasc Genet. 2013 Aug;6(4):354-61. doi: 10.1161/CIRCGENETICS.113.000023. Epub 2013 Jul 15. Circ Cardiovasc Genet. 2013. PMID: 23856471 Free PMC article.
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. Kapplinger JD, et al. Among authors: berthet m. Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8. Heart Rhythm. 2010. PMID: 20129283 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: berthet 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.
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P. Itoh H, et al. Among authors: berthet m. Eur J Hum Genet. 2016 Aug;24(8):1160-6. doi: 10.1038/ejhg.2015.257. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669661 Free PMC article.
75 results