Medeiros-Domingo A - Search Results

1

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Crotti L, et al. J Am Coll Cardiol. 2012 Oct 9;60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. Epub 2012 Jul 25. J Am Coll Cardiol. 2012. PMID: 22840528 Free PMC article.

2

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ. Medeiros-Domingo A, et al. Circulation. 2007 Jul 10;116(2):134-42. doi: 10.1161/CIRCULATIONAHA.106.659086. Epub 2007 Jun 25. Circulation. 2007. PMID: 17592081 Free PMC article.

3

[Clinical and genetic characteristics of long QT syndrome].

Medeiros-Domingo A, Iturralde-Torres P, Ackerman MJ. Medeiros-Domingo A, et al. Rev Esp Cardiol. 2007 Jul;60(7):739-52. Rev Esp Cardiol. 2007. PMID: 17663859 Free article. Review. Spanish.

4

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

Tan BH, Iturralde-Torres P, Medeiros-Domingo A, Nava S, Tester DJ, Valdivia CR, Tusié-Luna T, Ackerman MJ, Makielski JC. Tan BH, et al. Cardiovasc Res. 2007 Dec 1;76(3):409-17. doi: 10.1016/j.cardiores.2007.08.006. Epub 2007 Aug 22. Cardiovasc Res. 2007. PMID: 17897635 Free PMC article.

5

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.

Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC. Ueda K, et al. Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9355-60. doi: 10.1073/pnas.0801294105. Epub 2008 Jun 30. Proc Natl Acad Sci U S A. 2008. PMID: 18591664 Free PMC article.

6

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Medeiros-Domingo A, Tan BH, Iturralde-Torres P, Tester DJ, Tusié-Luna T, Makielski JC, Ackerman MJ. Medeiros-Domingo A, et al. Heart Rhythm. 2009 Aug;6(8):1170-5. doi: 10.1016/j.hrthm.2009.04.034. Epub 2009 May 4. Heart Rhythm. 2009. PMID: 19632629 Free PMC article.

7

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ. Medeiros-Domingo A, et al. J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022. J Am Coll Cardiol. 2009. PMID: 19926015 Free PMC article.

8

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ. Cheng J, et al. Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667-76. doi: 10.1161/CIRCEP.109.891440. Circ Arrhythm Electrophysiol. 2009. PMID: 20009079 Free PMC article.

9

Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.

Valdivia CR, Medeiros-Domingo A, Ye B, Shen WK, Algiers TJ, Ackerman MJ, Makielski JC. Valdivia CR, et al. Cardiovasc Res. 2010 Jun 1;86(3):392-400. doi: 10.1093/cvr/cvp417. Epub 2009 Dec 30. Cardiovasc Res. 2010. PMID: 20042427 Free PMC article.

10

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.

Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, Makielski JC, Ackerman MJ. Tan BH, et al. Heart Rhythm. 2010 Jun;7(6):771-8. doi: 10.1016/j.hrthm.2010.01.032. Epub 2010 Feb 1. Heart Rhythm. 2010. PMID: 20226894 Free PMC article.

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