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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2006 | 1 |
2009 | 1 |
2014 | 2 |
2018 | 2 |
2024 | 0 |
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6 results
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Page 1
Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A.
Circ J. 2014;78(5):1136-43. doi: 10.1253/circj.cj-13-1167. Epub 2014 Mar 6.
Circ J. 2014.
PMID: 24599044
Free article.
High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.
Hofman-Bang J, Behr ER, Hedley P, Tfelt-Hansen J, Kanters JK, Haunsøe S, McKenna WJ, Christiansen M.
Hofman-Bang J, et al.
Clin Genet. 2006 Jun;69(6):504-11. doi: 10.1111/j.1399-0004.2006.00621.x.
Clin Genet. 2006.
PMID: 16712702
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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.
Hedley PL, et al.
Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106.
Hum Mutat. 2009.
PMID: 19862833
Review.
Item in Clipboard
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O, Sørensen KM, Tybjærg-Hansen A, Ousager LB, Pedersen LN, Frikke-Schmidt R, Aidt FH, Hansen MG, Hansen J, Bloch Thomsen PE, Toft E, Henriksen FL, Bundgaard H, Jensen HK, Kanters JK.
Christiansen M, et al.
BMC Med Genet. 2014 Mar 7;15:31. doi: 10.1186/1471-2350-15-31.
BMC Med Genet. 2014.
PMID: 24606995
Free PMC article.
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SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.
Kroncke BM, Glazer AM, Smith DK, Blume JD, Roden DM.
Kroncke BM, et al.
Circ Genom Precis Med. 2018 May;11(5):e002095. doi: 10.1161/CIRCGEN.118.002095.
Circ Genom Precis Med. 2018.
PMID: 29728395
Free PMC article.
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SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.
Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L, Shimizu W, Bos JM, Stephenson EA, Wong L, Abrams DJ, Davis AM, Winbo A, Dubin AM, Sanatani S, Liberman L, Kaski JP, Rudic B, Kwok SY, Rieubland C, Tfelt-Hansen J, Van Hare GF, Guyomarc'h-Delasalle B, Blom NA, Wijeyeratne YD, Gourraud JB, Le Marec H, Ozawa J, Fressart V, Lupoglazoff JM, Dagradi F, Spazzolini C, Aiba T, Tester DJ, Zahavich LA, Beauséjour-Ladouceur V, Jadhav M, Skinner JR, Franciosi S, Krahn AD, Abdelsayed M, Ruben PC, Yung TC, Ackerman MJ, Wilde AA, Schwartz PJ, Probst V.
Baruteau AE, et al.
Eur Heart J. 2018 Aug 14;39(31):2879-2887. doi: 10.1093/eurheartj/ehy412.
Eur Heart J. 2018.
PMID: 30059973
Free article.
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