-
1
-
-
58049156523
-
Importance of knowing the genotype and the specific mutation when managing patients with long-QT syndrome
-
Moss AJ, Goldenberg I. Importance of knowing the genotype and the specific mutation when managing patients with long-QT syndrome. Circ Arrhythmia Electrophysiol. 2008; 117:219-226.
-
(2008)
Circ Arrhythmia Electrophysiol
, vol.117
, pp. 219-226
-
-
Moss, A.J.1
Goldenberg, I.2
-
2
-
-
70349338813
-
Yield of genetic screening in inherited cardiac channelopathies: How to prioritize access to genetic screening
-
Bai R, Napolitano C, Bloise R, Monteforte N, Priori SG. Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic screening. Circ Arrhythmia Electrophysiol. 2009; 2:6-15.
-
(2009)
Circ Arrhythmia Electrophysiol
, vol.2
, pp. 6-15
-
-
Bai, R.1
Napolitano, C.2
Bloise, R.3
Monteforte, N.4
Priori, S.G.5
-
3
-
-
20444481648
-
High distress in parents whose children undergo predictive genetic testing for long QT syndrome
-
Hendriks KSWH, Grosfeld FJM, Wilde AAM, van den Bout J, van Langen IM, van Tintelen JP, ten Kroode HFJ. High distress in parents whose children undergo predictive genetic testing for long QT syndrome. Community Genetics. 2005; 8:103-113. Hendriks KSWH, Hendriks MMWB, Birnie E, Grosfeld FJM, Wilde AAM, van den Bout J, Smets EMA, van Tintelen JP, ten Kroode HFJ, van Langen IM. Familial disease with a risk on sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome. Heart Rhythm. 2008;5:719 -724.
-
(2005)
Community Genetics
, vol.8
, pp. 103-113
-
-
Hendriks, K.S.W.H.1
Grosfeld, F.J.M.2
Wilde, A.A.M.3
Van Den, B.J.4
Van, L.I.M.5
Van, T.J.P.6
Ten, K.H.F.J.7
-
5
-
-
0037125369
-
Genotype-phenotype relationship in Brugada syndrome; electrocardiographic features differentiate SCN5A -related patients from non- SCN5A related patients
-
Smits JPP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, Haverkamp W, Breithardt G, Escande D, schulze-Bahr E, le Marec H, Wilde AAM. Genotype-phenotype relationship in Brugada syndrome; electrocardiographic features differentiate SCN5A-related patients from non-SCN5A related patients. J Am Coll Cardiol. 2002; 40:350-356.
-
(2002)
J Am Coll Cardiol
, vol.40
, pp. 350-356
-
-
Smits, J.P.P.1
Eckardt, L.2
Probst, V.3
Bezzina, C.R.4
Schott, J.J.5
Remme, C.A.6
Haverkamp, W.7
Breithardt, G.8
Escande, D.9
Schulze-Bahr, E.10
Le, M.H.11
Wilde, A.A.M.12
-
6
-
-
0037329069
-
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome
-
van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AAM. The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Gen. 2003; 40:141-145.
-
(2003)
J Med Gen.
, vol.40
, pp. 141-145
-
-
Van, L.I.M.1
Birnie, E.2
Alders, M.3
Jongbloed, R.J.4
Le, M.H.5
Wilde, A.A.M.6
-
7
-
-
34248512934
-
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
-
Moss AJ, Shimizu W, Wilde AAM, Towbin JA, Zareba W, Robinson JL, Lopes CMB, Qi M, Vincent M, Ackerman MJ, Kaufman E, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S. Clinical aspects of type-1 long-QT Syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007; 115:2481-2489.
-
(2007)
Circulation
, vol.115
, pp. 2481-2489
-
-
Moss, A.J.1
Shimizu, W.2
Wilde, A.A.M.3
Towbin, J.A.4
Zareba, W.5
Robinson, J.L.6
Lopes, C.M.B.7
Qi, M.8
Vincent, M.9
Ackerman, M.J.10
Kaufman, E.11
Hofman, N.12
Seth, R.13
Kamakura, S.14
Miyamoto, Y.15
Goldenberg, I.16
Andrews, M.L.17
Mcnitt, S.18
-
8
-
-
22144439771
-
Sudden unexplained death: Heritability, diagnostic yield, and therapeutic yield of cardiologic and genetic examination in surviving relatives
-
Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AAM. Sudden unexplained death: heritability, diagnostic yield, and therapeutic yield of cardiologic and genetic examination in surviving relatives. Circulation. 2005; 112:207-213.
-
(2005)
Circulation
, vol.112
, pp. 207-213
-
-
Tan, H.L.1
Hofman, N.2
Van, L.I.M.3
Van Der, W.A.C.4
Wilde, A.A.M.5
-
9
-
-
46849110148
-
Sudden arrhythmic death syndrome: Familial evaluation identifies inheritable heart disease in the majority of families
-
Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Esteban MT, Rowland E, Jeffery S, McKenna WJ. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008; 29:1670-1680.
-
(2008)
Eur Heart J.
, vol.29
, pp. 1670-1680
-
-
Behr, E.R.1
Dalageorgou, C.2
Christiansen, M.3
Syrris, P.4
Hughes, S.5
Esteban, M.T.6
Rowland, E.7
Jeffery, S.8
Mckenna, W.J.9
-
10
-
-
44849137662
-
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
-
Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Stigwart U, Antonarakis SE, Blouin J. A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Human Mutation. 2008; 29:879-885.
-
(2008)
Human Mutation
, vol.29
, pp. 879-885
-
-
Fokstuen, S.1
Lyle, R.2
Munoz, A.3
Gehrig, C.4
Lerch, R.5
Perrot, A.6
Osterziel, K.J.7
Geier, C.8
Beghetti, M.9
Mach, F.10
Sztajzel, J.11
Stigwart, U.12
Antonarakis, S.E.13
Blouin, J.14
-
11
-
-
0345690174
-
Ethnic differences in cardiac potassium channel variants: Implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
-
Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003; 78:1479-1487.
-
(2003)
Mayo Clin Proc.
, vol.78
, pp. 1479-1487
-
-
Ackerman, M.J.1
Tester, D.J.2
Jones, G.S.3
Will, M.L.4
Burrow, C.R.5
Curran, M.E.6
-
12
-
-
7744243863
-
Spectrum and prevalence of cardiac sodium channel variants among black, white, asian, and hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
-
Ackerman MJ, Splawski I, Makielski J, Tester D, Will M, Timothy K, Keating M, Jones G, Chadha M, Burrow C. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004; 1:600-607.
-
(2004)
Heart Rhythm
, vol.1
, pp. 600-607
-
-
Ackerman, M.J.1
Splawski, I.2
Makielski, J.3
Tester, D.4
Will, M.5
Timothy, K.6
Keating, M.7
Jones, G.8
Chadha, M.9
Burrow, C.10
|