-
1
-
-
49749174698
-
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death
-
Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957: 54: 59-68.
-
(1957)
Am Heart J
, vol.54
, pp. 59-68
-
-
Jervell, A.1
Lange-Nielsen, F.2
-
2
-
-
33750077549
-
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome
-
Goldenberg I, Moss AJ, Zareba W et al. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol 2006: 17: 1161-1168.
-
(2006)
J Cardiovasc Electrophysiol
, vol.17
, pp. 1161-1168
-
-
Goldenberg, I.1
Moss, A.J.2
Zareba, W.3
-
3
-
-
33644853794
-
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome
-
Schwartz PJ, Spazzolini C, Crotti L et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006: 113: 783-790.
-
(2006)
Circulation
, vol.113
, pp. 783-790
-
-
Schwartz, P.J.1
Spazzolini, C.2
Crotti, L.3
-
4
-
-
34347385249
-
The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome
-
Denjoy I, Lupoglazoff JM, Villain E et al. The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome. Arch Mal Coeur Vaiss 2007: 100: 359-364.
-
(2007)
Arch Mal Coeur Vaiss
, vol.100
, pp. 359-364
-
-
Denjoy, I.1
Lupoglazoff, J.M.2
Villain, E.3
-
5
-
-
11144356780
-
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome
-
Schwartz PJ, Priori SG, Cerrone M et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation 2004: 109: 1826-1833.
-
(2004)
Circulation
, vol.109
, pp. 1826-1833
-
-
Schwartz, P.J.1
Priori, S.G.2
Cerrone, M.3
-
6
-
-
0031054075
-
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
-
Neyroud N, Tesson F, Denjoy I et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997: 15: 186-189.
-
(1997)
Nat Genet
, vol.15
, pp. 186-189
-
-
Neyroud, N.1
Tesson, F.2
Denjoy, I.3
-
7
-
-
0031936234
-
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome
-
Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH. Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation 1998: 97: 142-146.
-
(1998)
Circulation
, vol.97
, pp. 142-146
-
-
Duggal, P.1
Vesely, M.R.2
Wattanasirichaigoon, D.3
Villafane, J.4
Kaushik, V.5
Beggs, A.H.6
-
8
-
-
33748707999
-
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome
-
Novotny T, Kadlecova J, Janousek J et al. The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. Pacing Clin Electrophysiol 2006: 29: 1013-1015.
-
(2006)
Pacing Clin Electrophysiol
, vol.29
, pp. 1013-1015
-
-
Novotny, T.1
Kadlecova, J.2
Janousek, J.3
-
9
-
-
0032833719
-
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene
-
Larsen LA, Fosdal I, Andersen PS et al. Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet 1999: 7: 724-728.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 724-728
-
-
Larsen, L.A.1
Fosdal, I.2
Andersen, P.S.3
-
10
-
-
33845920916
-
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome
-
Zehelein J, Kathoefer S, Khalil M et al. Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. J Biol Chem 2006: 281: 35397-35403.
-
(2006)
J Biol Chem
, vol.281
, pp. 35397-35403
-
-
Zehelein, J.1
Kathoefer, S.2
Khalil, M.3
-
11
-
-
61849173535
-
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome
-
Bhuiyan ZA, Momenah TS, Amin AS et al. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. Prog Biophys Mol Biol 2008: 98: 319-327.
-
(2008)
Prog Biophys Mol Biol
, vol.98
, pp. 319-327
-
-
Bhuiyan, Z.A.1
Momenah, T.S.2
Amin, A.S.3
-
12
-
-
78449302375
-
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family
-
Baek JS, Bae EJ, Lee SY et al. Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. J Korean Med Sci 2010: 25: 1522-1525.
-
(2010)
J Korean Med Sci
, vol.25
, pp. 1522-1525
-
-
Baek, J.S.1
Bae, E.J.2
Lee, S.Y.3
-
13
-
-
77949485057
-
A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters
-
Kanovsky J, Novotny T, Kadlecova J, Gaillyova R. A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. Heart Rhythm 2010: 7: 531-533.
-
(2010)
Heart Rhythm
, vol.7
, pp. 531-533
-
-
Kanovsky, J.1
Novotny, T.2
Kadlecova, J.3
Gaillyova, R.4
-
14
-
-
44149119311
-
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family
-
Ohno S, Kubota T, Yoshida H et al. A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. Circ J 2008: 72: 687-693.
-
(2008)
Circ J
, vol.72
, pp. 687-693
-
-
Ohno, S.1
Kubota, T.2
Yoshida, H.3
-
15
-
-
42449158565
-
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family
-
Zhang S, Yin K, Ren X et al. Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. BMC Med Genet 2008: 9: 24.
-
(2008)
BMC Med Genet
, vol.9
, pp. 24
-
-
Zhang, S.1
Yin, K.2
Ren, X.3
-
16
-
-
1542441180
-
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome)
-
Ning L, Moss AJ, Zareba W et al. Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). Ann Noninvasive Electrocardiol 2003: 8: 246-250.
-
(2003)
Ann Noninvasive Electrocardiol
, vol.8
, pp. 246-250
-
-
Ning, L.1
Moss, A.J.2
Zareba, W.3
-
17
-
-
0036353041
-
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome
-
Wang Z, Li H, Moss AJ et al. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genet Metab 2002: 75: 308-316.
-
(2002)
Mol Genet Metab
, vol.75
, pp. 308-316
-
-
Wang, Z.1
Li, H.2
Moss, A.J.3
-
18
-
-
0034164591
-
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X
-
Wei J, Fish FA, Myerburg RJ, Roden DM, George AL Jr. Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. Hum Mutat 2000: 15: 387-388.
-
(2000)
Hum Mutat
, vol.15
, pp. 387-388
-
-
Wei, J.1
Fish, F.A.2
Myerburg, R.J.3
Roden, D.M.4
George Jr, A.L.5
-
19
-
-
0033574219
-
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome
-
Chen Q, Zhang D, Gingell RL et al. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 1999: 99: 1344-1347.
-
(1999)
Circulation
, vol.99
, pp. 1344-1347
-
-
Chen, Q.1
Zhang, D.2
Gingell, R.L.3
-
20
-
-
0031278313
-
KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
-
Schulze-Bahr E, Wang Q, Wedekind H et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet 1997: 17: 267-268.
-
(1997)
Nat Genet
, vol.17
, pp. 267-268
-
-
Schulze-Bahr, E.1
Wang, Q.2
Wedekind, H.3
-
21
-
-
0035806944
-
De novo mutation in the SCN5A gene associated with early onset of sudden infant death
-
Wedekind H, Smits JP, Schulze-Bahr E et al. De novo mutation in the SCN5A gene associated with early onset of sudden infant death. Circulation 2001: 104: 1158-1164.
-
(2001)
Circulation
, vol.104
, pp. 1158-1164
-
-
Wedekind, H.1
Smits, J.P.2
Schulze-Bahr, E.3
-
22
-
-
54249137669
-
Neonatal long QT syndrome due to a de novo dominant negative hERG mutation
-
Beery TA, Shooner KA, Benson DW. Neonatal long QT syndrome due to a de novo dominant negative hERG mutation. Am J Crit Care 2007: 16: 412-415.
-
(2007)
Am J Crit Care
, vol.16
, pp. 412-415
-
-
Beery, T.A.1
Shooner, K.A.2
Benson, D.W.3
-
23
-
-
71849090068
-
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis
-
Medeiros-Domingo A, Bhuiyan ZA, Tester DJ et al. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009: 54: 2065-2074.
-
(2009)
J Am Coll Cardiol
, vol.54
, pp. 2065-2074
-
-
Medeiros-Domingo, A.1
Bhuiyan, Z.A.2
Tester, D.J.3
-
24
-
-
79960465023
-
Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype
-
343-6e1
-
Norek A, Stremska M, Sobczyńska-Tomaszewska A, Wertheim-Tysarowska K, Dmeńska H, Jurek M. Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype. J Pediatr 2011: 159: 343-6.e1.
-
(2011)
J Pediatr
, vol.159
-
-
Norek, A.1
Stremska, M.2
Sobczyńska-Tomaszewska, A.3
Wertheim-Tysarowska, K.4
Dmeńska, H.5
Jurek, M.6
-
25
-
-
2942701925
-
Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles
-
Zlotogora J. Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles. Hum Genet 2004: 114: 521-526.
-
(2004)
Hum Genet
, vol.114
, pp. 521-526
-
-
Zlotogora, J.1
-
26
-
-
84865208871
-
Rate of de novo mutations and the importance of father's age to disease risk
-
Kong A, Frigge ML, Masson G et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 2012: 488: 471-475.
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
Frigge, M.L.2
Masson, G.3
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