-
1
-
-
71849098104
-
Genotype-phenotype aspects of type 2 long QT syndrome
-
Shimizu W, Moss AJ, Wilde AA, Towbin JA, Ackerman MJ, January CT, Tester DJ, Zareba W, Robinson JL, Qi M, Vincent GM, Kaufman ES, Hofman N, Noda T, Kamakura S, Miyamoto Y, Shah S, Amin V, Goldenberg I, Andrews ML, McNitt S. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009;54:2052-2062.
-
(2009)
J Am Coll Cardiol
, vol.54
, pp. 2052-2062
-
-
Shimizu, W.1
Moss, A.J.2
Wilde, A.A.3
Towbin, J.A.4
Ackerman, M.J.5
January, C.T.6
Tester, D.J.7
Zareba, W.8
Robinson, J.L.9
Qi, M.10
Vincent, G.M.11
Kaufman, E.S.12
Hofman, N.13
Noda, T.14
Kamakura, S.15
Miyamoto, Y.16
Shah, S.17
Amin, V.18
Goldenberg, I.19
Andrews, M.L.20
McNitt, S.21
more..
-
2
-
-
80052300820
-
Striking in vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro
-
Watanabe H, Yang T, Stroud DM, Lowe JS, Harris L, Atack TC, Wang DW, Hipkens SB, Leake B, Hall L, Kupershmidt S, Chopra N, Magnuson MA, Tanabe N, Knollmann BC, George AL, Jr, Roden DM. Striking in vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation. 2011;124:1001-1011.
-
(2011)
Circulation
, vol.124
, pp. 1001-1011
-
-
Watanabe, H.1
Yang, T.2
Stroud, D.M.3
Lowe, J.S.4
Harris, L.5
Atack, T.C.6
Wang, D.W.7
Hipkens, S.B.8
Leake, B.9
Hall, L.10
Kupershmidt, S.11
Chopra, N.12
Magnuson, M.A.13
Tanabe, N.14
Knollmann, B.C.15
George Jr., A.L.16
Roden, D.M.17
-
3
-
-
0037428063
-
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
-
DOI 10.1161/01.RES.0000050585.07097.D7
-
Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res. 2003;92:14-22. (Pubitemid 36105602)
-
(2003)
Circulation Research
, vol.92
, Issue.1
, pp. 14-22
-
-
Groenewegen, W.A.1
Firouzi, M.2
Bezzina, C.R.3
Vliex, S.4
Van Langen, I.M.5
Sandkuijl, L.6
Smits, J.P.P.7
Hulsbeek, M.8
Rook, M.B.9
Jongsma, H.J.10
Wilde, A.A.M.11
-
4
-
-
5644229494
-
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
-
DOI 10.1161/01.CIR.0000144458.58660.BB
-
McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation. 2004;110:2163-2167. (Pubitemid 39372495)
-
(2004)
Circulation
, vol.110
, Issue.15
, pp. 2163-2167
-
-
McNair, W.P.1
Ku, L.2
Taylor, M.R.G.3
Fain, P.R.4
Dao, D.5
Wolfel, E.6
Mestroni, L.7
-
5
-
-
12544257550
-
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
-
Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ, Anderson JL. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005;293: 447-454.
-
(2005)
JAMA
, vol.293
, pp. 447-454
-
-
Olson, T.M.1
Michels, V.V.2
Ballew, J.D.3
Reyna, S.P.4
Karst, M.L.5
Herron, K.J.6
Horton, S.C.7
Rodeheffer, R.J.8
Anderson, J.L.9
-
6
-
-
61349143781
-
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
-
Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AA. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009;6:341-348.
-
(2009)
Heart Rhythm
, vol.6
, pp. 341-348
-
-
Meregalli, P.G.1
Tan, H.L.2
Probst, V.3
Koopmann, T.T.4
Tanck, M.W.5
Bhuiyan, Z.A.6
Sacher, F.7
Kyndt, F.8
Schott, J.J.9
Albuisson, J.10
Mabo, P.11
Bezzina, C.R.12
Le Marec, H.13
Wilde, A.A.14
-
7
-
-
77949508337
-
Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the SCN5A mouse model
-
Leoni AL, Gavillet B, Rougier JS, Marionneau C, Probst V, Le Scouarnec S, Schott JJ, Demolombe S, Bruneval P, Huang CL, Colledge WH, Grace AA, Le Marec H, Wilde AA, Mohler PJ, Escande D, Abriel H, Charpentier F. Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the SCN5A mouse model. PLoS ONE. 2010;5:e9298.
-
(2010)
PLoS ONE
, vol.5
-
-
Leoni, A.L.1
Gavillet, B.2
Rougier, J.S.3
Marionneau, C.4
Probst, V.5
Le Scouarnec, S.6
Schott, J.J.7
Demolombe, S.8
Bruneval, P.9
Huang, C.L.10
Colledge, W.H.11
Grace, A.A.12
Le Marec, H.13
Wilde, A.A.14
Mohler, P.J.15
Escande, D.16
Abriel, H.17
Charpentier, F.18
-
8
-
-
33750731284
-
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome
-
DOI 10.1161/CIRCULATIONAHA.106.627489, PII 0000301720061107000008
-
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. Compound heterozygous mutations p336l and i1660v in the human cardiac sodium channel associated with the Brugada syndrome. Circulation. 2006;114:2026-2033. (Pubitemid 44706878)
-
(2006)
Circulation
, vol.114
, Issue.19
, pp. 2026-2033
-
-
Cordeiro, J.M.1
Barajas-Martinez, H.2
Hong, K.3
Burashnikov, E.4
Pfeiffer, R.5
Orsino, A.-M.6
Wu, Y.S.7
Hu, D.8
Brugada, J.9
Brugada, P.10
Antzelevitch, C.11
Dumaine, R.12
Brugada, R.13
-
9
-
-
77953680594
-
A common single nucleotide polymorphism can exacerbate long-qt type 2 syndrome leading to sudden infant death
-
Nof E, Cordeiro JM, Perez GJ, Scornik FS, Calloe K, Love B, Burashnikov E, Caceres G, Gunsburg M, Antzelevitch C. A common single nucleotide polymorphism can exacerbate long-qt type 2 syndrome leading to sudden infant death. Circ Cardiovasc Genet. 2010;3:199-206.
-
(2010)
Circ Cardiovasc Genet
, vol.3
, pp. 199-206
-
-
Nof, E.1
Cordeiro, J.M.2
Perez, G.J.3
Scornik, F.S.4
Calloe, K.5
Love, B.6
Burashnikov, E.7
Caceres, G.8
Gunsburg, M.9
Antzelevitch, C.10
-
10
-
-
33747146463
-
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
-
DOI 10.1161/CIRCULATIONAHA.105.601294, PII 0000301720060801000006
-
Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, Anaclerio M, Troccoli R, Iacoviello M, Romito R, Guida P, Chahine M, Pitzalis M, Deschenes I. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation. 2006;114:368-376. (Pubitemid 44264817)
-
(2006)
Circulation
, vol.114
, Issue.5
, pp. 368-376
-
-
Poelzing, S.1
Forleo, C.2
Samodell, M.3
Dudash, L.4
Sorrentino, S.5
Anaclerio, M.6
Troccoli, R.7
Iacoviello, M.8
Romito, R.9
Guida, P.10
Chahine, M.11
Pitzalis, M.12
Deschenes, I.13
-
11
-
-
70350540922
-
NOS1AP is a genetic modifier of the long-QT syndrome
-
Crotti L, Monti MC, Insolia R, Peljto A, Goosen A, Brink PA, Greenberg DA, Schwartz PJ, George AL, Jr. NOS1AP is a genetic modifier of the long-QT syndrome. Circulation. 2009;120:1657-1663.
-
(2009)
Circulation
, vol.120
, pp. 1657-1663
-
-
Crotti, L.1
Monti, M.C.2
Insolia, R.3
Peljto, A.4
Goosen, A.5
Brink, P.A.6
Greenberg, D.A.7
Schwartz, P.J.8
George Jr., A.L.9
-
12
-
-
77956203272
-
Defining a new paradigm for human arrhythmia syndromes: Phenotypic manifestations of gene mutations in ion channel-and transporter-associated proteins
-
Ackerman MJ, Mohler PJ. Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel-and transporter-associated proteins. Circ Res. 2010;107: 457-465.
-
(2010)
Circ Res
, vol.107
, pp. 457-465
-
-
Ackerman, M.J.1
Mohler, P.J.2
-
13
-
-
77952722441
-
Active cascade screening in primary inherited arrhythmia syndromes: Does it lead to prophylactic treatment?
-
Hofman N, Tan HL, Alders M, van Langen IM, Wilde AA. Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? J Am Coll Cardiol. 2010;55:2570-2576.
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 2570-2576
-
-
Hofman, N.1
Tan, H.L.2
Alders, M.3
Van Langen, I.M.4
Wilde, A.A.5
-
14
-
-
68949209933
-
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
-
Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009;6: 1297-1303.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1297-1303
-
-
Kapplinger, J.D.1
Tester, D.J.2
Salisbury, B.A.3
Carr, J.L.4
Harris-Kerr, C.5
Pollevick, G.D.6
Wilde, A.A.7
Ackerman, M.J.8
-
15
-
-
79957975773
-
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia- associated mutations from background genetic noise
-
Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57:2317-2327.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 2317-2327
-
-
Kapplinger, J.D.1
Landstrom, A.P.2
Salisbury, B.A.3
Callis, T.E.4
Pollevick, G.D.5
Tester, D.J.6
Cox, M.G.7
Bhuiyan, Z.8
Bikker, H.9
Wiesfeld, A.C.10
Hauer, R.N.11
Van Tintelen, J.P.12
Jongbloed, J.D.13
Calkins, H.14
Judge, D.P.15
Wilde, A.A.16
Ackerman, M.J.17
|