Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Syndrome and KCNJ8[original query] |
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| Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart rhythm : the official journal of the Heart Rhythm Society 2010 Oct 7 (10): 1466-71. Medeiros-Domingo Argelia, Tan Bi-Hua, Crotti Lia, Tester David J, Eckhardt Lee, Cuoretti Alessandra, Kroboth Stacie L, Song Chunhua, Zhou Qing, Kopp Doug, Schwartz Peter J, Makielski Jonathan C, Ackerman Michael |
| The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews. European journal of human genetics : EJHG 2014 Jan 22 (1): 94-8. Veeramah Krishna R, Karafet Tatiana M, Wolf Daniel, Samson Ricardo A, Hammer Michael |
| Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death. Circulation. Cardiovascular genetics 2014 Dec 7 (6): 782-9. Perrin Mark J, Adler Arnon, Green Sharon, Al-Zoughool Foad, Doroshenko Petro, Orr Nathan, Uppal Shaheen, Healey Jeff S, Birnie David, Sanatani Shubhayan, Gardner Martin, Champagne Jean, Simpson Chris, Ahmad Kamran, van den Berg Maarten P, Chauhan Vijay, Backx Peter H, van Tintelen J Peter, Krahn Andrew D, Gollob Michael |
| Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. American journal of medical genetics. Part C, Seminars in medical genetics 2019 12 181 (4): 658-681. Grange Dorothy K, Roessler Helen I, McClenaghan Conor, Duran Karen, Shields Kathleen, Remedi Maria S, Knoers Nine V A M, Lee Jin-Moo, Kirk Edwin P, Scurr Ingrid, Smithson Sarah F, Singh Gautam K, van Haelst Mieke M, Nichols Colin G, van Haaften Gi |
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