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Results: 20

1.

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Chang RK, Lan YT, Silka MJ, Morrow H, Kwong A, Smith-Lang J, Wallerstein R, Lin HJ.

J Pediatr. 2014 Mar;164(3):590-5.e1-3. doi: 10.1016/j.jpeds.2013.11.011. Epub 2013 Dec 31.

PMID:
24388587
[PubMed - indexed for MEDLINE]
2.

Cochlear implantation in children with syndromic deafness.

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

Int J Pediatr Otorhinolaryngol. 2013 Aug;77(8):1312-6. doi: 10.1016/j.ijporl.2013.05.022. Epub 2013 Jun 15.

PMID:
23773333
[PubMed - indexed for MEDLINE]
3.

Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members.

Sanyal SK, Kaul KK, Hussein A, Wilroy RS, Agarwal K, Sohel S.

Cardiol Young. 2013 Aug;23(4):530-9. doi: 10.1017/S1047951113000164. Epub 2013 May 13.

PMID:
23668803
[PubMed - indexed for MEDLINE]
4.

Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.

Bostan O, Temel ŞG, Cangül H, Archer CN, Çil E.

Pediatr Cardiol. 2013;34(8):2063-7. doi: 10.1007/s00246-013-0634-3. Epub 2013 Feb 12.

PMID:
23400408
[PubMed - indexed for MEDLINE]
5.

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Giudicessi JR, Ackerman MJ.

Circ Cardiovasc Genet. 2013 Apr;6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684. Epub 2013 Feb 7.

PMID:
23392653
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
22805636
[PubMed - indexed for MEDLINE]
7.

Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/malignant ventricular arrhythmia syndromes besides congenital long-QT syndrome.

Coleman MA, Bos JM, Johnson JN, Owen HJ, Deschamps C, Moir C, Ackerman MJ.

Circ Arrhythm Electrophysiol. 2012 Aug 1;5(4):782-8. doi: 10.1161/CIRCEP.112.971754. Epub 2012 Jul 11.

PMID:
22787014
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
22539601
[PubMed - indexed for MEDLINE]
Free Article
9.

Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale.

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

Cochlear Implants Int. 2012 Aug;13(3):168-72. doi: 10.1179/1754762810Y.0000000006. Epub 2011 Jun 30.

PMID:
22333885
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ.

Nat Neurosci. 2011 Jan;14(1):77-84. doi: 10.1038/nn.2694. Epub 2010 Dec 5.

PMID:
21131953
[PubMed - indexed for MEDLINE]
12.

Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

Rice KS, Dickson G, Lane M, Crawford J, Chung SK, Rees MI, Shelling AN, Love DR, Skinner JR.

Heart Rhythm. 2011 Apr;8(4):551-4. doi: 10.1016/j.hrthm.2010.11.039. Epub 2010 Nov 30.

PMID:
21118729
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
20890437
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction.

Haugaa KH, Amlie JP, Berge KE, Leren TP, Smiseth OA, Edvardsen T.

Circulation. 2010 Oct 5;122(14):1355-63. doi: 10.1161/CIRCULATIONAHA.110.960377. Epub 2010 Sep 20.

PMID:
20855658
[PubMed - indexed for MEDLINE]
Free Article
15.

Causes of hearing impairment in the Norwegian paediatric cochlear implant program.

Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K.

Int J Audiol. 2010 Aug;49(8):596-605. doi: 10.3109/14992021003743269.

PMID:
20553101
[PubMed - indexed for MEDLINE]
16.

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M.

Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Review.

PMID:
19862833
[PubMed - indexed for MEDLINE]
17.

Arrhythmia phenotype in mouse models of human long QT.

Salama G, Baker L, Wolk R, Barhanin J, London B.

J Interv Card Electrophysiol. 2009 Mar;24(2):77-87. doi: 10.1007/s10840-008-9339-6. Epub 2009 Jan 16.

PMID:
19148726
[PubMed - indexed for MEDLINE]
18.

QT interval prolongation and risk for cardiac events in genotyped LQTS-index children.

Wedekind H, Burde D, Zumhagen S, Debus V, Burkhardtsmaier G, Mönnig G, Breithardt G, Schulze-Bahr E.

Eur J Pediatr. 2009 Sep;168(9):1107-15. doi: 10.1007/s00431-008-0896-6. Epub 2008 Dec 20.

PMID:
19101729
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
18805595
[PubMed - indexed for MEDLINE]

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