-
1
-
-
0028874658
-
Long qt syndrome patients with mutations of the scn5a and herg genes have differential responses to na+ channel blockade and to increases in heart rate
-
Schwartz PJ, Priori SG, Locati EH, Napolitano C, Cantu F, Towbin JA, Keating MT, Hammoude H, Brown AM, Chen LS (1995) Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Circulation 92:3381-3386
-
(1995)
Circulation
, vol.92
, pp. 3381-3386
-
-
Schwartz, P.J.1
Priori, S.G.2
Locati, E.H.3
Napolitano, C.4
Cantu, F.5
Towbin, J.A.6
Keating, M.T.7
Hammoude, H.8
Brown, A.M.9
Chen, L.S.10
-
2
-
-
29144494740
-
Genetic testing in the long qt syndrome
-
Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S (2005) Genetic testing in the long QT syndrome. JAMA 294(23):2975-2980
-
(2005)
JAMA
, vol.294
, Issue.23
, pp. 2975-2980
-
-
Napolitano, C.1
Priori, S.G.2
Schwartz, P.J.3
Bloise, R.4
Ronchetti, E.5
Nastoli, J.6
Bottelli, G.7
Cerrone, M.8
Leonardi, S.9
-
4
-
-
77952718663
-
A new approach to long qt syndrome mutation detection by sequenom masarray system
-
Allegue C, Gil R, Sanchez-Diz P, Torres M, Quintela I, Carracedo A, Brion M (2010) A new approach to long QT syndrome mutation detection by Sequenom MasARRAY system. Electrophoresis 31:1648-1655
-
(2010)
Electrophoresis
, vol.31
, pp. 1648-1655
-
-
Allegue, C.1
Gil, R.2
Sanchez-Diz, P.3
Torres, M.4
Quintela, I.5
Carracedo, A.6
Brion, M.7
-
5
-
-
67349190240
-
Clinical and genetic analysis of long qt syndrome in children from six families in saudi arabia: Are they different?
-
Bhuiyan ZA, Al-Shahrani S, Al-Khadar AS, Al-Ghamdi S, Al- Khalaf K, Mannens MMAM, Wilde AAM, Momenah TS (2009) Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different? Pediatr Cardiol 30(4):490-501
-
(2009)
Pediatr Cardiol
, vol.30
, Issue.4
, pp. 490-501
-
-
Bhuiyan, Z.A.1
Al-Shahrani, S.2
Al-Khadar, A.S.3
Al-Ghamdi, S.4
Al- Khalaf, K.5
Mmam, M.6
Wilde, A.A.M.7
Momenah, T.S.8
-
7
-
-
78650582026
-
Dna structural variants as genetic risk factors for long qt syndrome
-
Rich SS, Hall IM (2011) DNA structural variants as genetic risk factors for long QT syndrome. J Am Coll Cardiol 57 (1):48-50
-
(2011)
J Am Coll Cardiol
, vol.57
, Issue.1
, pp. 48-50
-
-
Rich, S.S.1
Hall, I.M.2
-
8
-
-
70449359365
-
Genetic testing for long-qt syndrome: Distinguishing pathogenic mutations from benign variants
-
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AAM, Ackerman MJ (2009) Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation 120:1752-1760
-
(2009)
Circulation
, vol.120
, pp. 1752-1760
-
-
Kapa, S.1
Tester, D.J.2
Salisbury, B.A.3
Harris-Kerr, C.4
Pungliya, M.S.5
Alders, M.6
Wilde, A.A.M.7
Ackerman, M.J.8
-
10
-
-
33750348298
-
Postmortem long qt syndrome genetic testing for sudden unexplained death in the young
-
Tester DJ, Ackermann MJ (2007) Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 49(2):240-246
-
(2007)
J Am Coll Cardiol
, vol.49
, Issue.2
, pp. 240-246
-
-
Tester, D.J.1
Ackermann, M.J.2
-
11
-
-
33645798617
-
The long qt syndrome family of cardiac ion channelopathies: A huge review
-
Modell SM, Lehmann MH (2006) The long QT syndrome family of cardiac ion channelopathies: a HuGE review.Genet Med 8(3):143-155
-
(2006)
Genet Med
, vol.8
, Issue.3
, pp. 143-155
-
-
Modell, S.M.1
Lehmann, M.H.2
-
12
-
-
34249051695
-
Cardia arrhythmias and sudden death in infancy: Implication for the medicolegal investigation
-
Wedekind H, Schulze-Bahr E, Debus V, Breithardt G, Brinkmann B, Bajanowski T (2007) Cardia arrhythmias and sudden death in infancy: implication for the medicolegal investigation. Int J Legal Med 121:245-257
-
(2007)
Int J Legal Med
, vol.121
, pp. 245-257
-
-
Wedekind, H.1
Schulze-Bahr, E.2
Debus, V.3
Breithardt, G.4
Brinkmann, B.5
Bajanowski, T.6
-
13
-
-
56449086640
-
Molecular genetics of sudden cardiac death
-
Rodriguez-Calvo MS, Brion M, Allegue C, Concheiro L, Carracedo A (2008) Molecular genetics of sudden cardiac death. Forensic Sci Int 182:1-12
-
(2008)
Forensic Sci Int
, vol.182
, pp. 1-12
-
-
Rodriguez-Calvo, M.S.1
Brion, M.2
Allegue, C.3
Concheiro, L.4
Carracedo, A.5
-
14
-
-
0031948260
-
Genomic organization and mutational analysis of herg, a gene responsible for familial long qt syndrome
-
Itoh T, Tanaka T, Nagai R, Kamiya T, Sawayama T, Nakayama T, Tomoike H, Sakurada H, Yazaki Y, Nakamura Y (1998) Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet 102:435-439
-
(1998)
Hum Genet
, vol.102
, pp. 435-439
-
-
Itoh, T.1
Tanaka, T.2
Nagai, R.3
Kamiya, T.4
Sawayama, T.5
Nakayama, T.6
Tomoike, H.7
Sakurada, H.8
Yazaki, Y.9
Nakamura, Y.10
-
15
-
-
17344389134
-
Genomic structure of three long qt syndrome genes: Kvlqt1, herg, and kcne1
-
Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 51:86-97
-
(1998)
Genomics
, vol.51
, pp. 86-97
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
Vincent, G.M.4
Lehmann, M.H.5
Keating, M.T.6
-
16
-
-
70350064529
-
A snapshot assay for the rapid and simple detection of four common hotspot codon mutations in the pik3ca gene
-
Hurst CD, Zuiverloon TC, Hafner C, Zwarthoff EC, Knowles MA (2009) A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene. BMC Res Notes 2:66
-
(2009)
BMC Res Notes
, vol.2
, pp. 66
-
-
Hurst, C.D.1
Zuiverloon, T.C.2
Hafner, C.3
Zwarthoff, E.C.4
Knowles, M.A.5
-
17
-
-
34547131080
-
Multiplex snapshot for detection of brca1/2 common mutations in spanish and spanish related breast/ovarian cancer families
-
Filippini S, Blanco A, Fernández-Marmiesse A, Alvarez- Iglesias V, Ruíz-PonteC CA, Vega A (2007) Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families. BMC Med Genet 8:40
-
(2007)
BMC Med Genet
, vol.8
, pp. 40
-
-
Filippini, S.1
Blanco, A.2
Fernández-Marmiesse, A.3
Alvarez- Iglesias, V.4
Ruíz-PonteC, C.A.5
Vega, A.6
-
18
-
-
38049146378
-
Clinical practice. Long-qt syndrome
-
Roden DM (2008) Clinical practice. Long-QT syndrome. N Engl J Med 358(2):169-176
-
(2008)
N Engl J Med
, vol.358
, Issue.2
, pp. 169-176
-
-
Roden, D.M.1
-
19
-
-
67650763167
-
Channelopathies: Brugada syndrome, long qt syndrome, short qt syndrome, and cpvt
-
Schimpf R, Veltmann C, Wolpert C, Borggrefe M (2009) Channelopathies: Brugada syndrome, long QT syndrome, short QT syndrome, and CPVT. Herz 34(4):281-288
-
(2009)
Herz
, vol.34
, Issue.4
, pp. 281-288
-
-
Schimpf, R.1
Veltmann, C.2
Wolpert, C.3
Borggrefe, M.4
-
20
-
-
30444449368
-
Screening for genomic alterations in congenital long qt syndrome
-
Darbar D (2006) Screening for genomic alterations in congenital long QT syndrome. Heart Rhythm 3(1):56-57
-
(2006)
Heart Rhythm
, vol.3
, Issue.1
, pp. 56-57
-
-
Darbar, D.1
-
21
-
-
74249085185
-
When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias?
-
Fowler SJ, Napolitano C, Priori SG (2010) When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias? Curr Opin Cardiol 25:37-45
-
(2010)
Curr Opin Cardiol
, vol.25
, pp. 37-45
-
-
Fowler, S.J.1
Napolitano, C.2
Priori, S.G.3
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