-
1
-
-
33644821919
-
The congenital long QT syndromes from genotype to phenotype: Clinical implications
-
P.J. Schwartz The congenital long QT syndromes from genotype to phenotype: clinical implications J Intern Med 259 2006 39 47
-
(2006)
J Intern Med
, vol.259
, pp. 39-47
-
-
Schwartz, P.J.1
-
2
-
-
70449435450
-
The genetic basis of long QT and short QT syndromes: A mutation update
-
P.L. Hedley, P. Jorgensen, and S. Schlamowitz The genetic basis of long QT and short QT syndromes: a mutation update Hum Mutat 30 2009 1486 1511
-
(2009)
Hum Mutat
, vol.30
, pp. 1486-1511
-
-
Hedley, P.L.1
Jorgensen, P.2
Schlamowitz, S.3
-
3
-
-
77952240724
-
Recent progress in congenital long QT syndrome
-
J.T. Lu, and R.S. Kass Recent progress in congenital long QT syndrome Curr Opin Cardiol 2010 Mar 10[Epub ahead of print]
-
(2010)
Curr Opin Cardiol
-
-
Lu, J.T.1
Kass, R.S.2
-
4
-
-
75549088645
-
Of founder populations, long QT syndrome, and destiny
-
P.A. Brink, and P.J. Schwartz Of founder populations, long QT syndrome, and destiny Heart Rhythm 6 11 Suppl 2009 S25 S33
-
(2009)
Heart Rhythm
, vol.6
, Issue.11 SUPPL.
-
-
Brink, P.A.1
Schwartz, P.J.2
-
5
-
-
36348942404
-
The genetic population structure of northern Sweden and its implications for mapping genetic diseases
-
DOI 10.1111/j.2007.0018-0661.02007.x
-
E. Einarsdottir, I. Egerbladh, L. Beckman, D. Holmberg, and S.A. Escher The genetic population structure of northern Sweden and its implications for mapping genetic diseases Hereditas 144 2007 171 180 (Pubitemid 350142210)
-
(2007)
Hereditas
, vol.144
, Issue.5
, pp. 171-180
-
-
Einarsdottir, E.1
Egerbladh, I.2
Beckman, L.3
Holmberg, D.4
Escher, S.A.5
-
6
-
-
77449084993
-
Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population
-
A. Winbo, U.B. Diamant, E.L. Stattin, S.M. Jensen, and A. Rydberg Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population Circ Cardiovasc Genet 2 2009 558 564
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 558-564
-
-
Winbo, A.1
Diamant, U.B.2
Stattin, E.L.3
Jensen, S.M.4
Rydberg, A.5
-
7
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
I. Splawski, J. Shen, and K.W. Timothy Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 2000 1178 1185
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
-
8
-
-
5444245540
-
Basolateral localisation of KCNQ1 potassium channels in MDCK cells: Molecular identification of an N-terminal targeting motif
-
DOI 10.1242/jcs.01318
-
T. Jespersen, H.B. Rasmussen, and M. Grunnet Basolateral localisation of KCNQ1 potassium channels in MDCK cells: molecular identification of an N-terminal targeting motif J Cell Sci 117 Pt 19 2004 4517 4526 (Pubitemid 39360077)
-
(2004)
Journal of Cell Science
, vol.117
, Issue.19
, pp. 4517-4526
-
-
Jespersen, T.1
Rasmussen, H.B.2
Grunnet, M.3
Jensen, H.S.4
Angelo, K.5
Dupuis, D.S.6
Vogel, L.K.7
Jorgensen, N.K.8
Klaerke, D.A.9
Olesen, S.-P.10
-
9
-
-
33750924829
-
The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: Implications in the Romano-Ward LQT1 syndrome
-
DOI 10.1161/01.RES.0000250262.12219.95, PII 0000301220061110000009
-
S. Dahimene, S. Alcolea, and P. Naud The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome Circ Res 99 2006 1076 1083 (Pubitemid 44729931)
-
(2006)
Circulation Research
, vol.99
, Issue.10
, pp. 1076-1083
-
-
Dahimene, S.1
Alcolea, S.2
Naud, P.3
Jourdon, P.4
Escande, D.5
Brasseur, R.6
Thomas, A.7
Baro, I.8
Merot, J.9
-
10
-
-
77952722441
-
Active cascade screening in primary inherited arrhythmia syndromes
-
N. Hofman, H.L. Tan, M. Alders, I.M. van Langen, and A.A. Wilde Active cascade screening in primary inherited arrhythmia syndromes J Am Coll Cardiol 55 2010 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
-
11
-
-
77952838895
-
Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology
-
P.J. Schwartz Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology J Am Coll Cardiol 55 2010 2577 2579
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 2577-2579
-
-
Schwartz, P.J.1
-
13
-
-
2942726191
-
Estimating the age of rare disease mutations: The example of Triple-A syndrome
-
E. Genin, A. Tullio-Pelet, F. Begeot, S. Lyonnet, and L. Abel Estimating the age of rare disease mutations: the example of triple-A syndrome J Med Genet 41 2004 445 449 (Pubitemid 38788040)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.6
, pp. 445-449
-
-
Genin, E.1
Tullio-Pelet, A.2
Begeot, F.3
Lyonnet, S.4
Abel, L.5
-
14
-
-
24944474042
-
The influence of past endogamy and consanguinity on genetic disorders in northern Sweden
-
DOI 10.1046/j.1529-8817.2005.00179.x
-
A.H. Bittles, and I. Egerbladh The influence of past endogamy and consanguinity on genetic disorders in northern Sweden Ann Hum Genet 69 Pt 5 2005 549 558 (Pubitemid 41309432)
-
(2005)
Annals of Human Genetics
, vol.69
, Issue.5
, pp. 549-558
-
-
Bittles, A.H.1
Egerbladh, I.2
-
15
-
-
68949209933
-
Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
-
J.D. Kapplinger, D.J. Tester, and B.A. Salisbury Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test Heart Rhythm 6 2009 1297 1303
-
(2009)
Heart Rhythm
, vol.6
, pp. 1297-1303
-
-
Kapplinger, J.D.1
Tester, D.J.2
Salisbury, B.A.3
-
16
-
-
2442657712
-
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
-
DOI 10.1080/17431380410032689
-
H. Fodstad, H. Swan, and P. Laitinen Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland Ann Med 36 2004 53 63 (Pubitemid 38669925)
-
(2004)
Annals of Medicine
, vol.36
, Issue.SUPPL. 1
, pp. 53-63
-
-
Fodstad, H.1
Swan, H.2
Laitinen, P.3
Piippo, K.4
Paavonen, K.5
Viitasalo, M.6
Toivonen, L.7
Kontula, K.8
-
17
-
-
50449111177
-
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
-
K.E. Berge, K.H. Haugaa, and A. Fruh Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers Scand J Clin Lab Invest 68 2008 362 368
-
(2008)
Scand J Clin Lab Invest
, vol.68
, pp. 362-368
-
-
Berge, K.E.1
Haugaa, K.H.2
Fruh, A.3
-
19
-
-
36348931620
-
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: Toward a mutation-specific risk stratification
-
DOI 10.1161/CIRCULATIONAHA.107.726950
-
L. Crotti, C. Spazzolini, and P.J. Schwartz The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification Circulation 116 2007 2366 2375 (Pubitemid 350145071)
-
(2007)
Circulation
, vol.116
, Issue.21
, pp. 2366-2375
-
-
Crotti, L.1
Spazzolini, C.2
Schwartz, P.J.3
Shimizu, W.4
Denjoy, I.5
Schulze-Bahr, E.6
Zaklyazminskaya, E.V.7
Swan, H.8
Ackerman, M.J.9
Moss, A.J.10
Wilde, A.A.M.11
Horie, M.12
Brink, P.A.13
Insolia, R.14
De Ferrari, G.M.15
Crimi, G.16
-
20
-
-
67650351374
-
High prevalence of four long QT syndrome founder mutations in the Finnish population
-
A. Marjamaa, V. Salomaa, and C. Newton-Cheh High prevalence of four long QT syndrome founder mutations in the Finnish population Ann Med 41 2009 234 240
-
(2009)
Ann Med
, vol.41
, pp. 234-240
-
-
Marjamaa, A.1
Salomaa, V.2
Newton-Cheh, C.3
-
21
-
-
27444442331
-
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population
-
DOI 10.1161/CIRCULATIONAHA.105.572453
-
P.A. Brink, L. Crotti, and V. Corfield Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population Circulation 112 2005 2602 2610 (Pubitemid 41532596)
-
(2005)
Circulation
, vol.112
, Issue.17
, 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
-
22
-
-
38649121254
-
Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome
-
DOI 10.1016/j.jacc.2007.09.069, PII S0735109707038867
-
P.J. Schwartz, E. Vanoli, and L. Crotti Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome J Am Coll Cardiol 51 2008 920 929 (Pubitemid 351282460)
-
(2008)
Journal of the American College of Cardiology
, vol.51
, Issue.9
, pp. 920-929
-
-
Schwartz, P.J.1
Vanoli, E.2
Crotti, L.3
Spazzolini, C.4
Ferrandi, C.5
Goosen, A.6
Hedley, P.7
Heradien, M.8
Bacchini, S.9
Turco, A.10
La Rovere, M.T.11
Bartoli, A.12
George Jr., A.L.13
Brink, P.A.14
-
23
-
-
70350540922
-
NOS1AP is a genetic modifier of the long-QT syndrome
-
L. Crotti, M.C. Monti, and R. Insolia NOS1AP is a genetic modifier of the long-QT syndrome Circulation 120 2009 1657 1663
-
(2009)
Circulation
, vol.120
, pp. 1657-1663
-
-
Crotti, L.1
Monti, M.C.2
Insolia, R.3
|