Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 162

1.

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.

Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15.

2.

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.

Heart Rhythm. 2010 Dec;7(12):1872-82. doi: 10.1016/j.hrthm.2010.08.026. Epub 2010 Oct 14.

3.

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D, Barajas-Martinez H, Antzelevitch C, Lüscher TF, Abriel H, Duru F.

Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7.

4.

Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

Wang Q, Ohno S, Ding WG, Fukuyama M, Miyamoto A, Itoh H, Makiyama T, Wu J, Bai J, Hasegawa K, Shinohara T, Takahashi N, Shimizu A, Matsuura H, Horie M.

J Cardiovasc Electrophysiol. 2014 May;25(5):522-30. doi: 10.1111/jce.12361. Epub 2014 Jan 30.

PMID:
24400717
5.

Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.

Barajas-Martínez H, Hu D, Ferrer T, Onetti CG, Wu Y, Burashnikov E, Boyle M, Surman T, Urrutia J, Veltmann C, Schimpf R, Borggrefe M, Wolpert C, Ibrahim BB, Sánchez-Chapula JA, Winters S, Haïssaguerre M, Antzelevitch C.

Heart Rhythm. 2012 Apr;9(4):548-55. doi: 10.1016/j.hrthm.2011.10.035. Epub 2011 Nov 3.

6.

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.

Cordeiro JM, Marieb M, Pfeiffer R, Calloe K, Burashnikov E, Antzelevitch C.

J Mol Cell Cardiol. 2009 May;46(5):695-703.

7.

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.

Béziau DM, Barc J, O'Hara T, Le Gloan L, Amarouch MY, Solnon A, Pavin D, Lecointe S, Bouillet P, Gourraud JB, Guicheney P, Denjoy I, Redon R, Mabo P, le Marec H, Loussouarn G, Kyndt F, Schott JJ, Probst V, Baró I.

Basic Res Cardiol. 2014;109(6):446. doi: 10.1007/s00395-014-0446-5. Epub 2014 Oct 24.

PMID:
25341504
8.
9.

Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

Bébarová M, O'Hara T, Geelen JL, Jongbloed RJ, Timmermans C, Arens YH, Rodriguez LM, Rudy Y, Volders PG.

Am J Physiol Heart Circ Physiol. 2008 Jul;295(1):H48-58. doi: 10.1152/ajpheart.91495.2007. Epub 2008 May 2.

10.

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Yang T, Chung SK, Zhang W, Mullins JG, McCulley CH, Crawford J, MacCormick J, Eddy CA, Shelling AN, French JK, Yang P, Skinner JR, Roden DM, Rees MI.

Circ Arrhythm Electrophysiol. 2009 Aug;2(4):417-26. doi: 10.1161/CIRCEP.109.850149. Epub 2009 May 22.

11.

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.

Baroudi G, Napolitano C, Priori SG, Del Bufalo A, Chahine M.

Can J Cardiol. 2004 Mar 15;20(4):425-30.

PMID:
15057319
12.

Genetic and clinical aspects of Brugada syndrome: an update.

Lippi G, Montagnana M, Meschi T, Comelli I, Cervellin G.

Adv Clin Chem. 2012;56:197-208. Review.

PMID:
22397033
13.

Short QT syndrome.

Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M.

Cardiovasc Res. 2005 Aug 15;67(3):357-66. Review.

14.

The genetic basis of Brugada syndrome: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.

Hum Mutat. 2009 Sep;30(9):1256-66. doi: 10.1002/humu.21066. Review.

PMID:
19606473
15.

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N.

Circ Arrhythm Electrophysiol. 2013 Feb;6(1):177-84. doi: 10.1161/CIRCEP.112.974220.

16.

Clinical and molecular genetics of the short QT syndrome.

Schimpf R, Borggrefe M, Wolpert C.

Curr Opin Cardiol. 2008 May;23(3):192-8. doi: 10.1097/HCO.0b013e3282fbf756. Review.

PMID:
18382206
17.

Cardiac ion channel safety profiling on the IonWorks Quattro automated patch clamp system.

Cao X, Lee YT, Holmqvist M, Lin Y, Ni Y, Mikhailov D, Zhang H, Hogan C, Zhou L, Lu Q, Digan ME, Urban L, Erdemli G.

Assay Drug Dev Technol. 2010 Dec;8(6):766-80. doi: 10.1089/adt.2010.0333. Epub 2010 Dec 6.

PMID:
21133679
18.

A sodium channel pore mutation causing Brugada syndrome.

Pfahnl AE, Viswanathan PC, Weiss R, Shang LL, Sanyal S, Shusterman V, Kornblit C, London B, Dudley SC Jr.

Heart Rhythm. 2007 Jan;4(1):46-53. Epub 2006 Sep 28.

19.

[Doubts of the cardiologist regarding an electrocardiogram presenting QRS V1-V2 complexes with positive terminal wave and ST segment elevation. Consensus Conference promoted by the Italian Cardiology Society].

Oreto G, Corrado D, Delise P, Fedele F, Gaita F, Gentile F, Giustetto C, Michelucci A, Padeletti L, Priori S.

G Ital Cardiol (Rome). 2010 Nov;11(11 Suppl 2):3S-22S. Italian.

PMID:
21361048
20.

Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

Hong K, Bjerregaard P, Gussak I, Brugada R.

J Cardiovasc Electrophysiol. 2005 Apr;16(4):394-6.

PMID:
15828882
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk