Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 108

1.

Female predominance and transmission distortion in the long-QT syndrome.

Imboden M, Swan H, Denjoy I, Van Langen IM, Latinen-Forsblom PJ, Napolitano C, Fressart V, Breithardt G, Berthet M, Priori S, Hainque B, Wilde AA, Schulze-Bahr E, Feingold J, Guicheney P.

N Engl J Med. 2006 Dec 28;355(26):2744-51.

PMID:
17192539
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.

Yamaguchi M, Shimizu M, Ino H, Terai H, Hayashi K, Kaneda T, Mabuchi H, Sumita R, Oshima T, Hoshi N, Higashida H.

Clin Sci (Lond). 2005 Feb;108(2):143-50.

PMID:
15500450
[PubMed - indexed for MEDLINE]
Free Article
4.

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ.

Hum Mutat. 1999;13(4):301-10.

PMID:
10220144
[PubMed - indexed for MEDLINE]
5.

[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].

Liang L, Du ZD, Cai LL, Wu JX, Zheng T, Qi TX.

Zhonghua Er Ke Za Zhi. 2003 Oct;41(10):724-7. Chinese.

PMID:
14731347
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome.

Moss AJ, Zareba W, Benhorin J, Locati EH, Hall WJ, Robinson JL, Schwartz PJ, Towbin JA, Vincent GM, Lehmann MH.

Circulation. 1995 Nov 15;92(10):2929-34.

PMID:
7586261
[PubMed - indexed for MEDLINE]
Free Article
8.

Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.

Grunnet M, Behr ER, Calloe K, Hofman-Bang J, Till J, Christiansen M, McKenna WJ, Olesen SP, Schmitt N.

Heart Rhythm. 2005 Nov;2(11):1238-49.

PMID:
16253915
[PubMed - indexed for MEDLINE]
9.

Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations.

Benhorin J, Moss AJ, Bak M, Zareba W, Kaufman ES, Kerem B, Towbin JA, Priori S, Kass RS, Attali B, Brown AM, Ficker E.

Ann Noninvasive Electrocardiol. 2002 Jan;7(1):40-6.

PMID:
11844290
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Zhang X, Chen S, Zhang L, Liu M, Redfearn S, Bryant RM, Oberti C, Vincent GM, Wang QK.

BMC Med Genet. 2008 Sep 23;9:87. doi: 10.1186/1471-2350-9-87.

PMID:
18808722
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

Hum Mutat. 2000 Apr;15(4):387-8.

PMID:
10737999
[PubMed - indexed for MEDLINE]
13.

Investigation of ion channel gene variants in patients with long QT syndrome.

Ernesto C, Cruz FE, Lima FS, Coutinho JL, Silva R, Urményi TP, Carvalho AC, Rondinelli E.

Arq Bras Cardiol. 2011 Mar;96(3):172-8. Epub 2011 Feb 4. English, Portuguese, Spanish.

PMID:
21308345
[PubMed - indexed for MEDLINE]
Free Article
14.

The inherited long QT syndrome: from ion channel to bedside.

Vincent GM, Timothy K, Fox J, Zhang L.

Cardiol Rev. 1999 Jan-Feb;7(1):44-55. Review.

PMID:
10348966
[PubMed - indexed for MEDLINE]
15.

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Yang T, Chung SK, Zhang W, Mullins JG, McCulley CH, Crawford J, MacCormick J, Eddy CA, Shelling AN, French JK, Yang P, Skinner JR, Roden DM, Rees MI.

Circ Arrhythm Electrophysiol. 2009 Aug;2(4):417-26. doi: 10.1161/CIRCEP.109.850149. Epub 2009 May 22.

PMID:
19808498
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

Balmaña J, Díez O, Campos B, Majewski M, Sanz J, Alonso C, Baiget M, Garber JE.

Breast Cancer Res Treat. 2005 Aug;92(3):273-7.

PMID:
16155798
[PubMed - indexed for MEDLINE]
17.

Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family.

Zamorano-León JJ, Alonso-Orgaz S, Moreno J, Cinza R, García-Torrent MJ, Pérez-Castellano N, Pérez-Villacastín J, Macaya C, López-Farré AJ.

Int J Cardiol. 2010 Jul 9;142(2):206-8. doi: 10.1016/j.ijcard.2008.11.166. Epub 2009 Jan 10.

PMID:
19136169
[PubMed - indexed for MEDLINE]
18.

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

Neyroud N, Denjoy I, Donger C, Gary F, Villain E, Leenhardt A, Benali K, Schwartz K, Coumel P, Guicheney P.

Eur J Hum Genet. 1998 Mar-Apr;6(2):129-33.

PMID:
9781056
[PubMed - indexed for MEDLINE]
Free Article
19.

Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, Locati EH, Towbin JA, Keating MT, Lehmann MH, Hall WJ.

N Engl J Med. 1998 Oct 1;339(14):960-5.

PMID:
9753711
[PubMed - indexed for MEDLINE]
Free Article
20.

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, Chivoret G, Schwartz K, Coumel P, Guicheney P.

Circulation. 1997 Nov 4;96(9):2778-81.

PMID:
9386136
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk