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Near-miss SIDS due to Brugada syndrome.
Skinner JR, Chung SK, Montgomery D, McCulley CH, Crawford J, French J, Rees MI. Skinner JR, et al. Arch Dis Child. 2005 May;90(5):528-9. doi: 10.1136/adc.2004.058115. Arch Dis Child. 2005. PMID: 15851440 Free PMC article.
QT interval prolongation associated with sibutramine treatment.
Harrison-Woolrych M, Clark DW, Hill GR, Rees MI, Skinner JR. Harrison-Woolrych M, et al. Among authors: skinner jr. Br J Clin Pharmacol. 2006 Apr;61(4):464-9. doi: 10.1111/j.1365-2125.2006.02574.x. Br J Clin Pharmacol. 2006. PMID: 16542208 Free PMC article.
Long QT and Brugada syndrome gene mutations in New Zealand.
Chung SK, MacCormick JM, McCulley CH, Crawford J, Eddy CA, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI. Chung SK, et al. Among authors: skinner jr. Heart Rhythm. 2007 Oct;4(10):1306-14. doi: 10.1016/j.hrthm.2007.06.022. Epub 2007 Jul 14. Heart Rhythm. 2007. PMID: 17905336
Coinheritance of long QT syndrome and Kearns-Sayre syndrome.
Skinner JR, Yang T, Purvis D, Chung SK, Roden DM, Rees MI. Skinner JR, et al. Heart Rhythm. 2007 Dec;4(12):1568-72. doi: 10.1016/j.hrthm.2007.08.013. Epub 2007 Aug 15. Heart Rhythm. 2007. PMID: 17980675 No abstract available.
Misdiagnosis of long QT syndrome as epilepsy at first presentation.
MacCormick JM, McAlister H, Crawford J, French JK, Crozier I, Shelling AN, Eddy CA, Rees MI, Skinner JR. MacCormick JM, et al. Among authors: skinner jr. Ann Emerg Med. 2009 Jul;54(1):26-32. doi: 10.1016/j.annemergmed.2009.01.031. Epub 2009 Mar 12. Ann Emerg Med. 2009. PMID: 19282063
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.
Zhao JT, Hill AP, Varghese A, Cooper AA, Swan H, Laitinen-Forsblom PJ, Rees MI, Skinner JR, Campbell TJ, Vandenberg JI. Zhao JT, et al. Among authors: skinner jr. J Cardiovasc Electrophysiol. 2009 Aug;20(8):923-30. doi: 10.1111/j.1540-8167.2009.01468.x. Epub 2009 Apr 10. J Cardiovasc Electrophysiol. 2009. PMID: 19490267
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. Yang T, et al. Among authors: skinner jr. Circ Arrhythm Electrophysiol. 2009 Aug;2(4):417-26. doi: 10.1161/CIRCEP.109.850149. Epub 2009 May 22. Circ Arrhythm Electrophysiol. 2009. PMID: 19808498 Free PMC article.
324 results