-
1
-
-
50449111177
-
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers'
-
Berge, K. E., Haugaa, K. H., Früh, A., Anfinsen, O. G., Gjesdal, K., Siem, G., Oyen, N., Greve, G., Carlsson, A., Rognum, T. O., Hallerud, M., Kongsgård, E., Amlie, J. P., and Leren, T. P. (2008). Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers'. Scand. J. Clin. Lab. Invest. 68:5, 362-368.
-
(2008)
Scand. J. Clin. Lab. Invest.
, vol.68
, Issue.5
, pp. 362-368
-
-
Berge, K.E.1
Haugaa, K.H.2
Früh, A.3
Anfinsen, O.G.4
Gjesdal, K.5
Siem, G.6
Oyen, N.7
Greve, G.8
Carlsson, A.9
Rognum, T.O.10
Hallerud, M.11
Kongsgård, E.12
Amlie, J.P.13
Leren, T.P.14
-
2
-
-
0037423552
-
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system
-
Bezzina, C. R., Rook, M. B., Groenewegen, W. A., Herfst, L. J., van der Wal, A. C., Lam, J., Jongsma, H. J., Wilde, A. A., and Mannens, M. M. (2003). Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ. Res. 92, 159-168.
-
(2003)
Circ. Res.
, vol.92
, pp. 159-168
-
-
Bezzina, C.R.1
Rook, M.B.2
Groenewegen, W.A.3
Herfst, L.J.4
van der Wal, A.C.5
Lam, J.6
Jongsma, H.J.7
Wilde, A.A.8
Mannens, M.M.9
-
3
-
-
27444442331
-
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population
-
Brink, P. A., Crotti, L., Corfield, V., Goosen, A., Durrheim, G., Hedley, P., Heradien, M., Geldenhuys, G., Vanoli, E., Bacchini, S., Spazzolini, C., Lundquist, A. L., Roden, D. M., George, A. L. Jr., and Schwartz, P. J. (2005). Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation 112, 2602-2610.
-
(2005)
Circulation
, vol.112
, pp. 2602-2610
-
-
Brink, P.A.1
Crotti, L.2
Corfield, V.3
Goosen, A.4
Durrheim, G.5
Hedley, P.6
Heradien, M.7
Geldenhuys, G.8
Vanoli, E.9
Bacchini, S.10
Spazzolini, C.11
Lundquist, A.L.12
Roden, D.M.13
George Jr., A.L.14
Schwartz, P.J.15
-
4
-
-
33947528431
-
Role of implantable cardioverter defibrillator therapy in patients with long QT syndrome
-
Daubert, J. P., Zareba, W., Rosero, S. Z., Budzikowski, A., Robinson, J. L., and Moss, A. J. (2007). Role of implantable cardioverter defibrillator therapy in patients with long QT syndrome. Am. Heart J. 153(Suppl.), 53-58.
-
(2007)
Am. Heart J.
, vol.153
, Issue.SUPPL.
, pp. 53-58
-
-
Daubert, J.P.1
Zareba, W.2
Rosero, S.Z.3
Budzikowski, A.4
Robinson, J.L.5
Moss, A.J.6
-
5
-
-
33744976320
-
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients
-
Fodstad, H., Bendahhou, S., Rougier, J. S., Laitinen-Forsblom, P. J., Barhanin, J., Abriel, H., Schild, L., Kontula, K., and Swan, H. (2006). Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients. Ann. Med. 38, 294-304.
-
(2006)
Ann. Med.
, vol.38
, pp. 294-304
-
-
Fodstad, H.1
Bendahhou, S.2
Rougier, J.S.3
Laitinen-Forsblom, P.J.4
Barhanin, J.5
Abriel, H.6
Schild, L.7
Kontula, K.8
Swan, H.9
-
6
-
-
53049089951
-
Long QT syndrome
-
Goldenberg, I., Zareba, W., and Moss, A. J. (2008). Long QT syndrome. Curr. Probl. Cardiol. 33, 629-694.
-
(2008)
Curr. Probl. Cardiol.
, vol.33
, pp. 629-694
-
-
Goldenberg, I.1
Zareba, W.2
Moss, A.J.3
-
7
-
-
2942577638
-
New KCNQ1 mutations leading to haploinsufficiency in a general population Defective trafficking of a KvLQT1 mutant
-
Gouas, L., Bellocq, C., Berthet, M., Potet, F., Demolombe, S., Forhan, A., Lescasse, R., Simon, F., Balkau, B., Denjoy, I., Hainque, B., Baró, I., and Guicheney, P. (2004). New KCNQ1 mutations leading to haploinsufficiency in a general population. Defective trafficking of a KvLQT1 mutant. Cardiovasc. Res. 63, 60-68.
-
(2004)
Cardiovasc. Res.
, vol.63
, pp. 60-68
-
-
Gouas, L.1
Bellocq, C.2
Berthet, M.3
Potet, F.4
Demolombe, S.5
Forhan, A.6
Lescasse, R.7
Simon, F.8
Balkau, B.9
Denjoy, I.10
Hainque, B.11
Baró, I.12
Guicheney, P.13
-
8
-
-
77957254021
-
Long QT syndrome with compound mutations is associatedwith a more severe phenotype: a Japanese multicenter study
-
Itoh, H., Shimizu, W., Hayashi, K., Yamagata, K., Sakaguchi, T., Ohno, S., Makiyama, T., Akao, M., Ai, T., Noda, T., Miyazaki, A., Miyamoto, Y., Yamagishi, M., Kamakura, S., and Horie, M. (2010). Long QT syndrome with compound mutations is associatedwith a more severe phenotype: a Japanese multicenter study. Heart Rhythm 7, 1411-1418.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1411-1418
-
-
Itoh, H.1
Shimizu, W.2
Hayashi, K.3
Yamagata, K.4
Sakaguchi, T.5
Ohno, S.6
Makiyama, T.7
Akao, M.8
Ai, T.9
Noda, T.10
Miyazaki, A.11
Miyamoto, Y.12
Yamagishi, M.13
Kamakura, S.14
Horie, M.15
-
9
-
-
68949209933
-
Spectrum and prevalence of mutations from the first 2 500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
-
Kapplinger, J. D., Tester, D. J., Salisbury, B. A., Carr, J. L., Harris-Kerr, C., Pollevick, G. D., Wilde, K. K., and Ackerman, M. J. (2009). Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 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, K.K.7
Ackerman, M.J.8
-
10
-
-
84874945452
-
High prevalence of long QT syndrome founder mutations in the Finnish population
-
Marjamaa, A., Salomaa, V., Newton-Cheh, C., Porthan, K., Reunanen, A., Karanko, H., Jula, A., Lahermo, P., Väänänen, H., Toivonen, L., Swan, H., Viitasalo, M., Nieminen, M. S., Peltonen, L., Oikarinen, L., Palotie, A., and Kontula, K. (2009). High prevalence of long QT syndrome founder mutations in the Finnish population. Ann. Med. 10, 12.
-
(2009)
Ann. Med.
, vol.10
, pp. 12
-
-
Marjamaa, A.1
Salomaa, V.2
Newton-Cheh, C.3
Porthan, K.4
Reunanen, A.5
Karanko, H.6
Jula, A.7
Lahermo, P.8
Väänänen, H.9
Toivonen, L.10
Swan, H.11
Viitasalo, M.12
Nieminen, M.S.13
Peltonen, L.14
Oikarinen, L.15
Palotie, A.16
Kontula, K.17
-
11
-
-
3042611768
-
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome
-
Miller, T. E., Estrella, E., Myerburg, R. J., Garcia de Viera, J., Moreno, N., Rusconi, P., Ahearn, M. E., Baumbach, L., Kurlansky, P., Wolff, G., and Bishopric, N. H. (2004). Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation 109, 3029-3034.
-
(2004)
Circulation
, vol.109
, pp. 3029-3034
-
-
Miller, T.E.1
Estrella, E.2
Myerburg, R.J.3
Garcia de Viera, J.4
Moreno, N.5
Rusconi, P.6
Ahearn, M.E.7
Baumbach, L.8
Kurlansky, P.9
Wolff, G.10
Bishopric, N.H.11
-
12
-
-
68649089264
-
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome
-
Nishio, Y., Makiyama, T., Itoh, H., Sakaguchi, T., Ohno, S., Gong, Y. S., Yamamoto, S., Ozawa, T., Ding, W. G., Toyoda, F., Kawamura, M., Akao, M., Matsuura, H., Kimura, T., Kita, T., and Horie, M. (2009). D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J. Am. Coll. Cardiol. 54, 812-819.
-
(2009)
J. Am. Coll. Cardiol.
, vol.54
, pp. 812-819
-
-
Nishio, Y.1
Makiyama, T.2
Itoh, H.3
Sakaguchi, T.4
Ohno, S.5
Gong, Y.S.6
Yamamoto, S.7
Ozawa, T.8
Ding, W.G.9
Toyoda, F.10
Kawamura, M.11
Akao, M.12
Matsuura, H.13
Kimura, T.14
Kita, T.15
Horie, M.16
-
13
-
-
0033514263
-
Low penetrance in the long-QT syndrome: clinical impact
-
Priori, S., Napolitano, C., and Schwartz, P. (1999). Low penetrance in the long-QT syndrome: clinical impact. Circulation 99, 529-533.
-
(1999)
Circulation
, vol.99
, pp. 529-533
-
-
Priori, S.1
Napolitano, C.2
Schwartz, P.3
-
14
-
-
70349468244
-
Genetics of cardiac arrhythmias
-
8th Edn, eds P. Libby, R. O. Bonow,D. L. Mann, and D. P. Zipes (Philadelphia: Saunders Elsevier)
-
Priori, S., Napolitano, C., and Schwartz, P. (2008). "Genetics of cardiac arrhythmias," in Braunwald's Heart Disease, 8th Edn, eds P. Libby, R. O. Bonow,D. L. Mann, and D. P. Zipes (Philadelphia: Saunders Elsevier), 101-110.
-
(2008)
Braunwald's Heart Disease
, pp. 101-110
-
-
Priori, S.1
Napolitano, C.2
Schwartz, P.3
-
15
-
-
84864144507
-
High prevalence of genetic variants previously associated with LQT syndrome in new exome data
-
PMID: 22378279. [Epub ahead of print]
-
Refsgaard, L., Holst, A., Sadijadieh, G., Haunsø, S., Nielsen, J., and Olesen, M. (2012). High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur. J. Hum. Genet. PMID: 22378279. [Epub ahead of print].
-
(2012)
Eur. J. Hum. Genet.
-
-
Refsgaard, L.1
Holst, A.2
Sadijadieh, G.3
Haunsø, S.4
Nielsen, J.5
Olesen, M.6
-
16
-
-
33750045981
-
Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data
-
Richter, S., and Brugada, P. (2006). Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data. J. Cardiovasc. Electrophysiol. 17, 1169-1171.
-
(2006)
J. Cardiovasc. Electrophysiol.
, vol.17
, pp. 1169-1171
-
-
Richter, S.1
Brugada, P.2
-
17
-
-
0033378863
-
Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis
-
Roden, D. M., and Spooner, P. M. (1999). Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis. J. Cardiovasc. Electrophysiol. 10, 1664-1683.
-
(1999)
J. Cardiovasc. Electrophysiol.
, vol.10
, pp. 1664-1683
-
-
Roden, D.M.1
Spooner, P.M.2
-
18
-
-
70449367296
-
Prevalence of the congenital long-QT syndrome
-
Schwartz, P. J., Stramba-Badiale, M., Crotti, L., Pedrazzini, M., Besana, A., Bosi, G., Gabbarini, F., Goulene, K., Insolia, R., Mannarino, S., Mosca, F., Nespoli, L., Rimini, A., Rosati, E., Salice, P., and Spazzolini, C. (2009). Prevalence of the congenital long-QT syndrome. Circulation 120, 1761-1767.
-
(2009)
Circulation
, vol.120
, pp. 1761-1767
-
-
Schwartz, P.J.1
Stramba-Badiale, M.2
Crotti, L.3
Pedrazzini, M.4
Besana, A.5
Bosi, G.6
Gabbarini, F.7
Goulene, K.8
Insolia, R.9
Mannarino, S.10
Mosca, F.11
Nespoli, L.12
Rimini, A.13
Rosati, E.14
Salice, P.15
Spazzolini, C.16
-
19
-
-
0003425462
-
A common polymorphism associated with antibiotic-induced cardiac arrhythmia
-
Sesti, F., Abbott, G. W., Wei, J., Murray, K. T., Saksena, S., Schwartz, P. J., Priori, S. G., Roden, D. M., George, A. L. Jr., and Goldstein, S. A. (2000). A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc. Natl. Acad. Sci. U.S.A. 97, 10613-10618.
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 10613-10618
-
-
Sesti, F.1
Abbott, G.W.2
Wei, J.3
Murray, K.T.4
Saksena, S.5
Schwartz, P.J.6
Priori, S.G.7
Roden, D.M.8
George Jr., A.L.9
Goldstein, S.A.10
-
20
-
-
79952142077
-
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations
-
Shinlapawittayatorn, K., Du, X. X., Liu, H., Ficker, E., Kaufman, E. S., and Deschênes, I. (2011). A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm 8, 455-462.
-
(2011)
Heart Rhythm
, vol.8
, pp. 455-462
-
-
Shinlapawittayatorn, K.1
Du, X.X.2
Liu, H.3
Ficker, E.4
Kaufman, E.S.5
Deschênes, I.6
-
21
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Splawski, I., Shen, J., Timothy, K. W., Lehmann, M. H., Priori, S., Robinson, J. L., Moss, A. J., Schwartz, P. J., Towbin, J. A., Vincent, G. M., and Keating, M. T. (2000). Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102, 1178-1185.
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
Lehmann, M.H.4
Priori, S.5
Robinson, J.L.6
Moss, A.J.7
Schwartz, P.J.8
Towbin, J.A.9
Vincent, G.M.10
Keating, M.T.11
-
22
-
-
33745572947
-
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results
-
Tester, D. J., Cronk, L. B, Carr, J. L., Schulz, V., Salisbury, B. A., Judson, R. S., and Ackerman, M. J. (2006). Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm 3, 815-821.
-
(2006)
Heart Rhythm
, vol.3
, pp. 815-821
-
-
Tester, D.J.1
Cronk, L.B.2
Carr, J.L.3
Schulz, V.4
Salisbury, B.A.5
Judson, R.S.6
Ackerman, M.J.7
-
24
-
-
58749096216
-
Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood
-
Webster, G., and Berul, C. I. (2008). Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood. Trends Cardiovasc. Med. 18, 216-224.
-
(2008)
Trends Cardiovasc. Med.
, vol.18
, pp. 216-224
-
-
Webster, G.1
Berul, C.I.2
-
25
-
-
1942534554
-
Compound mutations a common cause of severe long-QT syndrome
-
Westenskow, P., Splawski, I., Timothy, K., Keating, M. T., and Sanguinetti, M. C. (2004). Compound mutations a common cause of severe long-QT syndrome. Circulation 109, 1834-1841.
-
(2004)
Circulation
, vol.109
, pp. 1834-1841
-
-
Westenskow, P.1
Splawski, I.2
Timothy, K.3
Keating, M.T.4
Sanguinetti, M.C.5
|