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Results: 1 to 20 of 95

Similar articles for PubMed (Select 9927399)

1.

Low penetrance in the long-QT syndrome: clinical impact.

Priori SG, Napolitano C, Schwartz PJ.

Circulation. 1999 Feb 2;99(4):529-33.

2.

An extended family suddenly confronted with a life-threatening hereditary arrhythmia.

Hendriks KS, van Langen IM, van Tintelen JP, Grosfeld FJ, Wilde AA, Ten Kroode HF.

Neth Heart J. 2005 Sep;13(9):295-299.

3.

Reduced Uptake of Family Screening in Genotype-Negative Versus Genotype-Positive Long QT Syndrome.

Hanninen M, Klein GJ, Laksman Z, Conacher SS, Skanes AC, Yee R, Gula LJ, Leong-Sit P, Manlucu J, Krahn AD.

J Genet Couns. 2014 Oct 3. [Epub ahead of print]

PMID:
25273952
4.

High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

Takahashi K, Shimizu W, Miyake A, Nabeshima T, Nakayashiro M, Ganaha H.

Circ J. 2014;78(8):1974-9. Epub 2014 May 28.

5.

Low clinical penetrance in causal mutation carriers for cardiac channelopathies.

Jiménez-Jáimez J, Álvarez M, Algarra M, Macías Ruíz R, Peñas R, Valverde F, Tortajada G, Lorente JA, Melgares R, Tercedor L.

Rev Esp Cardiol (Engl Ed). 2013 Apr;66(4):275-81. doi: 10.1016/j.rec.2012.09.009. Epub 2012 Dec 21.

PMID:
24775617
6.

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).

Fröhler S, Kieslich M, Langnick C, Feldkamp M, Opgen-Rhein B, Berger F, Will JC, Chen W.

BMC Med Genet. 2014 Apr 29;15:48. doi: 10.1186/1471-2350-15-48.

7.

Cascade screening in families with inherited cardiac diseases driven by cardiologists: feasibility and nationwide outcome in long QT syndrome.

Theilade J, Kanters J, Henriksen FL, Gilså-Hansen M, Svendsen JH, Eschen O, Toft E, Reimers JI, Tybjærg-Hansen A, Christiansen M, Jensen HK, Bundgaard H.

Cardiology. 2013;126(2):131-7. doi: 10.1159/000350825. Epub 2013 Aug 21.

PMID:
23969902
8.

Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance.

Patel VV.

Heart Rhythm. 2013 Oct;10(10):1507-8. doi: 10.1016/j.hrthm.2013.07.039. Epub 2013 Jul 26. No abstract available.

PMID:
23892339
9.

Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs?

Earle N, Crawford J, Smith W, Hayes I, Shelling A, Hood M, Stiles M, Maxwell F, Heaven D, Love DR, Skinner JR.

Heart Rhythm. 2013 Feb;10(2):233-8. doi: 10.1016/j.hrthm.2012.10.043. Epub 2012 Nov 1.

PMID:
23123674
10.

Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.

Andrsova I, Novotny T, Kadlecova J, Bittnerova A, Vit P, Florianova A, Sisakova M, Gaillyova R, Manouskova L, Spinar J.

J Electrocardiol. 2012 Nov-Dec;45(6):746-51. doi: 10.1016/j.jelectrocard.2012.05.004. Epub 2012 Jun 22.

PMID:
22727609
11.

Variable expression and incomplete penetrance of developmental dysplasia of the hip: clinical challenge in a 71-member multigeneration family.

Feldman GJ, Peters CL, Erickson JA, Hozack BA, Jaraha R, Parvizi J.

J Arthroplasty. 2012 Apr;27(4):527-32. doi: 10.1016/j.arth.2011.10.016. Epub 2011 Dec 16.

PMID:
22177793
12.

A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family.

Møller P, Clark N, Mæhle L.

Hum Mutat. 2011 May;32(5):568-71. doi: 10.1002/humu.21441. Epub 2011 Feb 22.

PMID:
21309035
13.

The long-QT syndrome Genetic considerations.

Moss AJ, Robinson JL.

Trends Cardiovasc Med. 1992 May-Jun;2(3):81-3. doi: 10.1016/1050-1738(92)90010-P.

PMID:
21239264
14.

Abnormal repolarization dynamics revealed in exercise test in long QT syndrome mutation carriers with normal resting QT interval.

Hekkala AM, Viitasalo M, Väänänen H, Swan H, Toivonen L.

Europace. 2010 Sep;12(9):1296-301. doi: 10.1093/europace/euq184. Epub 2010 Jun 20.

15.

The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy.

Ruiter JS, Berkenbosch-Nieuwhof K, van den Berg MP, van Dijk R, Middel B, van Tintelen JP.

Am J Med Genet A. 2010 Mar;152A(3):607-12. doi: 10.1002/ajmg.a.33270.

PMID:
20186837
16.

[A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome].

Lian J, Zhou J, Huang X, Wang Y, Yang X, Li D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):77-80. doi: 10.3760/cma.j.issn.1003-9406.2010.01.017. Chinese.

PMID:
20140874
17.

Prevalence of the congenital long-QT syndrome.

Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, Gabbarini F, Goulene K, Insolia R, Mannarino S, Mosca F, Nespoli L, Rimini A, Rosati E, Salice P, Spazzolini C.

Circulation. 2009 Nov 3;120(18):1761-7. doi: 10.1161/CIRCULATIONAHA.109.863209. Epub 2009 Oct 19.

18.

Expression of a common LQT1 mutation in five apparently unrelated families in a regional inherited arrhythmia clinic.

Gray C, Gula LJ, Klein GJ, Skanes AC, Yee R, Sy R, Salisbury BA, Wong J, Chattha I, Subbiah RN, Krahn AD.

J Cardiovasc Electrophysiol. 2010 Mar;21(3):296-300. doi: 10.1111/j.1540-8167.2009.01626.x. Epub 2009 Oct 8.

PMID:
19817925
19.

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

Nishio Y, Makiyama T, Itoh H, Sakaguchi T, Ohno S, Gong YZ, Yamamoto S, Ozawa T, Ding WG, Toyoda F, Kawamura M, Akao M, Matsuura H, Kimura T, Kita T, Horie M.

J Am Coll Cardiol. 2009 Aug 25;54(9):812-9. doi: 10.1016/j.jacc.2009.06.005.

20.

Giant T-U waves precede torsades de pointes in long QT syndrome: a systematic electrocardiographic analysis in patients with acquired and congenital QT prolongation.

Kirchhof P, Franz MR, Bardai A, Wilde AM.

J Am Coll Cardiol. 2009 Jul 7;54(2):143-9. doi: 10.1016/j.jacc.2009.03.043.

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