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3,624 results

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The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Lahrouchi N, Raju H, Lodder EM, Papatheodorou S, Miles C, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen M, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Sheppard MN, Bezzina CR, Behr ER. Lahrouchi N, et al. Among authors: crawford j. Eur J Hum Genet. 2020 Jan;28(1):17-22. doi: 10.1038/s41431-019-0500-8. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534214 Free PMC article.
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. Among authors: crawford j. Arch Dis Child. 2005 May;90(5):528-9. doi: 10.1136/adc.2004.058115. Arch Dis Child. 2005. PMID: 15851440 Free PMC article.
Brugada syndrome masquerading as febrile seizures.
Skinner JR, Chung SK, Nel CA, Shelling AN, Crawford JR, McKenzie N, Pinnock R, French JK, Rees MI. Skinner JR, et al. Pediatrics. 2007 May;119(5):e1206-11. doi: 10.1542/peds.2006-2628. Epub 2007 Apr 9. Pediatrics. 2007. PMID: 17420262
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: crawford j. 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
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: crawford j. 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
Posthumous diagnosis of long QT syndrome from neonatal screening cards.
Gladding PA, Evans CA, Crawford J, Chung SK, Vaughan A, Webster D, Neas K, Love DR, Rees MI, Shelling AN, Skinner JR. Gladding PA, et al. Among authors: crawford j. Heart Rhythm. 2010 Apr;7(4):481-6. doi: 10.1016/j.hrthm.2009.12.023. Epub 2010 Jan 4. Heart Rhythm. 2010. PMID: 20167303
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR; Cardiac Inherited Disease Group New Zealand. Skinner JR, et al. Among authors: crawford j. Heart Rhythm. 2011 Mar;8(3):412-9. doi: 10.1016/j.hrthm.2010.11.016. Epub 2010 Nov 9. Heart Rhythm. 2011. PMID: 21070882
3,624 results