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Diagnostic clinical genome and exome sequencing.

Biesecker LG, Green RC.

N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available.


Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

Sung JY, Bae EJ, Park S, Kim SY, Hyun YJ, Park SS, Seong MW.

Ann Lab Med. 2014 Sep;34(5):395-8. doi: 10.3343/alm.2014.34.5.395. Epub 2014 Aug 21.


Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

Winbo A, Stattin EL, Nordin C, Diamant UB, Persson J, Jensen SM, Rydberg A.

BMC Cardiovasc Disord. 2014 Feb 19;14:22. doi: 10.1186/1471-2261-14-22.


Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

Al-Aama JY, Al-Ghamdi S, Bdier AY, AlQarawi A, Jiman OA, Al-Aama N, Al-Aata J, Wilde AA, Bhuiyan ZA.

Clin Genet. 2015;87(1):74-9. doi: 10.1111/cge.12330. Epub 2013 Dec 27.


Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol.

Chockalingam P, Crotti L, Girardengo G, Johnson JN, Harris KM, van der Heijden JF, Hauer RN, Beckmann BM, Spazzolini C, Rordorf R, Rydberg A, Clur SA, Fischer M, van den Heuvel F, Kääb S, Blom NA, Ackerman MJ, Schwartz PJ, Wilde AA.

J Am Coll Cardiol. 2012 Nov 13;60(20):2092-9. doi: 10.1016/j.jacc.2012.07.046. Epub 2012 Oct 17.


Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome.

Winbo A, Sandström O, Palmqvist R, Rydberg A.

Cardiol Young. 2013 Jun;23(3):325-34. doi: 10.1017/S1047951112001060. Epub 2012 Jul 18.


Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Gao Y, Li C, Liu W, Wu R, Qiu X, Liang R, Li L, Zhang L, Hu D.

J Cardiovasc Dis Res. 2012 Apr;3(2):67-75. doi: 10.4103/0975-3583.95357.


Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

Winbo A, Stattin EL, Diamant UB, Persson J, Jensen SM, Rydberg A.

Europace. 2012 Dec;14(12):1799-806. doi: 10.1093/europace/eus111. Epub 2012 Apr 26.


Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation.

Olesen MS, Bentzen BH, Nielsen JB, Steffensen AB, David JP, Jabbari J, Jensen HK, Haunsø S, Svendsen JH, Schmitt N.

BMC Med Genet. 2012 Apr 3;13:24. doi: 10.1186/1471-2350-13-24.


Cochlear implantation in Jervell & Lange-Nielsen syndrome: a cautionary report.

Broomfield SJ, Bruce IA, Henderson L, Green KM, Ramsden RT.

Cochlear Implants Int. 2010 Jun;11 Suppl 1:163-5. doi: 10.1179/146701010X12671177818506. No abstract available.


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.


Importance and implementation of training in cardiopulmonary resuscitation and automated external defibrillation in schools: a science advisory from the American Heart Association.

Cave DM, Aufderheide TP, Beeson J, Ellison A, Gregory A, Hazinski MF, Hiratzka LF, Lurie KG, Morrison LJ, Mosesso VN Jr, Nadkarni V, Potts J, Samson RA, Sayre MR, Schexnayder SM; American Heart Association Emergency Cardiovascular Care Committee; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular Diseases in the Young; Council on Cardiovascular Nursing; Council on Clinical Cardiology, and Advocacy Coordinating Committee.

Circulation. 2011 Feb 15;123(6):691-706. doi: 10.1161/CIR.0b013e31820b5328. Epub 2011 Jan 10. No abstract available.


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.


Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome.

Hothi SS, Thomas G, Killeen MJ, Grace AA, Huang CL.

Pflugers Arch. 2009 Sep;458(5):819-35. doi: 10.1007/s00424-009-0671-1. Epub 2009 May 9.


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.


Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature.

Yanmei F, Yaqin W, Haibo S, Huiqun Z, Zhengnong C, Dongzhen Y, Shankai Y.

Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1723-9. doi: 10.1016/j.ijporl.2008.07.013. Epub 2008 Sep 20. Review.


Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.

Eddy CA, MacCormick JM, Chung SK, Crawford JR, Love DR, Rees MI, Skinner JR, Shelling AN.

Heart Rhythm. 2008 Sep;5(9):1275-81. doi: 10.1016/j.hrthm.2008.05.033. Epub 2008 Jun 4.


Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP.

Scand J Clin Lab Invest. 2008;68(5):362-8. doi: 10.1080/00365510701765643.


Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance.

Siem G, Früh A, Leren TP, Heimdal K, Teig E, Harris S.

Ear Hear. 2008 Apr;29(2):261-9.


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.

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