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Items: 1 to 20 of 381

1.

A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

Ohno S, Kubota T, Yoshida H, Tsuji K, Makiyama T, Yamada S, Kuga K, Yamaguchi I, Kita T, Horie M.

Circ J. 2008 May;72(5):687-93.

2.

Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.

Wang RR, Li N, Zhang YH, Wang LL, Teng SY, Pu JL.

Int J Mol Med. 2011 Jul;28(1):41-6. doi: 10.3892/ijmm.2011.642. Epub 2011 Mar 4.

PMID:
21380488
3.

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA.

Mol Genet Metab. 2002 Apr;75(4):308-16.

PMID:
12051962
4.

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, Robinson J, Rosero S, Ryan D, Qi M.

Ann Noninvasive Electrocardiol. 2003 Jul;8(3):246-50.

PMID:
14510661
5.

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, Wang P, Zhang S, Cheng L, Yang J, Liu JY, Liu M, Wang QK.

BMC Med Genet. 2008 Apr 9;9:24. doi: 10.1186/1471-2350-9-24.

6.

Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome.

Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, Ulmer HE, Katus HA, Koenen M.

J Biol Chem. 2006 Nov 17;281(46):35397-403. Epub 2006 Sep 19.

7.

Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome.

Thomas D, Wimmer AB, Karle CA, Licka M, Alter M, Khalil M, Ulmer HE, Kathöfer S, Kiehn J, Katus HA, Schoels W, Koenen M, Zehelein J.

Cardiovasc Res. 2005 Aug 15;67(3):487-97.

8.

George M. Cober Lecturer: Mark T. Keating. Molecular basis of the long-QT syndrome associated with deafness.

Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT.

Proc Assoc Am Physicians. 1997 Sep;109(5):504-11.

PMID:
9285950
9.

[KCNQ 1 (KvLQT1) missense mutation causing congenital long QT syndrome (Jervell-Lange-Nielsen) in a Mexican family].

Márquez MF, Ramos-Kuri M, Hernández-Pacheco G, Estrada J, Fabregat JR, Pérez-Vielma N, Gómez-Flores J, González-Hermosillo A, Cárdenas M, Vargas-Alarcón G.

Arch Cardiol Mex. 2006 Jul-Sep;76(3):257-62. Spanish.

PMID:
17091796
10.

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.

Ohno S, Zankov DP, Yoshida H, Tsuji K, Makiyama T, Itoh H, Akao M, Hancox JC, Kita T, Horie M.

Heart Rhythm. 2007 Mar;4(3):332-40. Epub 2006 Nov 10.

PMID:
17341399
11.

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.

Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M.

Hum Mutat. 2009 Apr;30(4):557-63. doi: 10.1002/humu.20834.

PMID:
19306396
12.

Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.

Baek JS, Bae EJ, Lee SY, Park SS, Kim SY, Jung KN, Noh CI.

J Korean Med Sci. 2010 Oct;25(10):1522-5. doi: 10.3346/jkms.2010.25.10.1522. Epub 2010 Sep 20.

13.

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K.

J Am Coll Cardiol. 2001 Feb;37(2):562-8.

14.

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, Al-Khadra AS, Alders M, Wilde AA, Mannens MM.

Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):319-27. doi: 10.1016/j.pbiomolbio.2008.10.004. Epub 2008 Nov 5.

PMID:
19027783
15.

[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].

Liu WL, Hu DY, Li P, Li CL, Qin XG, Li YT, Li L, Li ZM, Dong W, Qi Y, Wang Q.

Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Jan;33(1):41-4. Chinese.

PMID:
15924777
16.

Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1.

Kubota T, Shimizu W, Kamakura S, Horie M.

J Cardiovasc Electrophysiol. 2000 Sep;11(9):1048-54.

PMID:
11021476
17.

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, Towbin JA.

Circulation. 1999 Mar 16;99(10):1344-7.

18.

[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].

Mönnig G, Schulze-Bahr E, Wedekind H, Eckardt L, Kirchhof P, Funke H, Kotthoff S, Vogt J, Assmann G, Breithardt G, Haverkamp W.

Z Kardiol. 2002 May;91(5):380-8. Review. German.

PMID:
12132284
19.

Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing.

Sharma D, Glatter KA, Timofeyev V, Tuteja D, Zhang Z, Rodriguez J, Tester DJ, Low R, Scheinman MM, Ackerman MJ, Chiamvimonvat N.

J Mol Cell Cardiol. 2004 Jul;37(1):79-89.

PMID:
15242738
20.

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I.

Circulation. 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6.

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