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Page 1
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino AM, Wu YS, Hu D, Brugada J, Brugada P, Antzelevitch C, Dumaine R, Brugada R. Cordeiro JM, et al. Among authors: pfeiffer r. Circulation. 2006 Nov 7;114(19):2026-33. doi: 10.1161/CIRCULATIONAHA.106.627489. Epub 2006 Oct 30. Circulation. 2006. PMID: 17075016 Free PMC article.
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haïssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Antzelevitch C, et al. Among authors: pfeiffer r. Circulation. 2007 Jan 30;115(4):442-9. doi: 10.1161/CIRCULATIONAHA.106.668392. Epub 2007 Jan 15. Circulation. 2007. PMID: 17224476 Free PMC article.
Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.
Hu D, Barajas-Martinez H, Nesterenko VV, Pfeiffer R, Guerchicoff A, Cordeiro JM, Curtis AB, Pollevick GD, Wu Y, Burashnikov E, Antzelevitch C. Hu D, et al. Among authors: pfeiffer r. Pacing Clin Electrophysiol. 2010 Mar;33(3):274-85. doi: 10.1111/j.1540-8159.2009.02642.x. Epub 2009 Dec 16. Pacing Clin Electrophysiol. 2010. PMID: 20025708 Free PMC article.
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laiño R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, Veltmann C, Antzelevitch C. Burashnikov E, et al. Among authors: pfeiffer r. Heart Rhythm. 2010 Dec;7(12):1872-82. doi: 10.1016/j.hrthm.2010.08.026. Epub 2010 Oct 14. Heart Rhythm. 2010. PMID: 20817017 Free PMC article.
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
Calloe K, Schmitt N, Grubb S, Pfeiffer R, David JP, Kanter R, Cordeiro JM, Antzelevitch C. Calloe K, et al. Among authors: pfeiffer r. Can J Physiol Pharmacol. 2011 Oct;89(10):723-36. doi: 10.1139/y11-070. Epub 2011 Sep 6. Can J Physiol Pharmacol. 2011. PMID: 21895525 Free PMC article.
A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.
Hu D, Barajas-Martínez H, Medeiros-Domingo A, Crotti L, Veltmann C, Schimpf R, Urrutia J, Alday A, Casis O, Pfeiffer R, Burashnikov E, Caceres G, Tester DJ, Wolpert C, Borggrefe M, Schwartz P, Ackerman MJ, Antzelevitch C. Hu D, et al. Among authors: pfeiffer r. Heart Rhythm. 2012 May;9(5):760-9. doi: 10.1016/j.hrthm.2011.12.006. Epub 2011 Dec 7. Heart Rhythm. 2012. PMID: 22155597 Free PMC article.
1,336 results