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Items: 1 to 20 of 194

1.

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.

Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA.

Hum Mol Genet. 2002 Feb 1;11(3):337-45.

2.

Novel mutations in domain I of SCN5A cause Brugada syndrome.

Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA.

Mol Genet Metab. 2002 Apr;75(4):317-24.

PMID:
12051963
3.
4.

A single Na(+) channel mutation causing both long-QT and Brugada syndromes.

Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA.

Circ Res. 1999 Dec 3-17;85(12):1206-13.

5.

Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.

Hsueh CH, Chen WP, Lin JL, Tsai CT, Liu YB, Juang JM, Tsao HM, Su MJ, Lai LP.

J Biomed Sci. 2009 Feb 20;16:23. doi: 10.1186/1423-0127-16-23.

6.

Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.

Itoh H, Shimizu M, Mabuchi H, Imoto K.

J Cardiovasc Electrophysiol. 2005 Apr;16(4):378-83.

PMID:
15828879
7.

Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

Liu C, Tester DJ, Hou Y, Wang W, Lv G, Ackerman MJ, Makielski JC, Cheng J.

Forensic Sci Int. 2014 Mar;236:38-45. doi: 10.1016/j.forsciint.2013.12.033. Epub 2014 Jan 7.

PMID:
24529773
8.

Linkage analyses and SCN5A mutations screening in five sudden unexplained death syndrome (Lai-tai) families.

Sangwatanaroj S, Yanatasneejit P, Sunsaneewitayakul B, Sitthisook S.

J Med Assoc Thai. 2002 Jun;85 Suppl 1:S54-61.

PMID:
12188452
9.

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
10.

[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
11.

Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.

Wang DW, Makita N, Kitabatake A, Balser JR, George AL Jr.

Circ Res. 2000 Oct 13;87(8):E37-43.

12.

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.

13.

The implications of genetic mutations in the sodium channel gene (SCN5A).

Moric E, Herbert E, Trusz-Gluza M, Filipecki A, Mazurek U, Wilczok T.

Europace. 2003 Oct;5(4):325-34. Review.

14.

Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).

Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, Chahine M.

Circ Res. 2001 Jun 22;88(12):E78-83.

15.

Mutational screening of SCN5A linked disorders in Polish patients and their family members.

Moric-Janiszewska E, Herbert E, Cholewa K, Filipecki A, Trusz-Gluza M, Wilczok T.

J Appl Genet. 2004;45(3):383-90.

PMID:
15306732
16.

Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.

Shin DJ, Jang Y, Park HY, Lee JE, Yang K, Kim E, Bae Y, Kim J, Kim J, Kim SS, Lee MH, Chahine M, Yoon SK.

J Hum Genet. 2004;49(10):573-8. Epub 2004 Aug 26.

PMID:
15338453
17.

Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.

Amin AS, Verkerk AO, Bhuiyan ZA, Wilde AA, Tan HL.

Acta Physiol Scand. 2005 Dec;185(4):291-301.

PMID:
16266370
18.

Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes.

Baroudi G, Chahine M.

FEBS Lett. 2000 Dec 29;487(2):224-8.

19.

A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.

Keller DI, Huang H, Zhao J, Frank R, Suarez V, Delacrétaz E, Brink M, Osswald S, Schwick N, Chahine M.

Cardiovasc Res. 2006 Jun 1;70(3):521-9. Epub 2006 Mar 3.

20.

A novel mutation in the SCN5A gene is associated with Brugada syndrome.

Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.

Life Sci. 2007 Jan 30;80(8):716-24. Epub 2006 Dec 1.

PMID:
17141278
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