Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Long QT Syndrome and RYR2[original query] |
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| Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart rhythm : the official journal of the Heart Rhythm Society 2005 Oct 2 (10): 1099-105. Tester David J, Kopplin Laura J, Will Melissa L, Ackerman Michael |
| The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. Journal of the American College of Cardiology 2009 Nov 54 (22): 2065-74. Medeiros-Domingo Argelia, Bhuiyan Zahurul A, Tester David J, Hofman Nynke, Bikker Hennie, van Tintelen J Peter, Mannens Marcel M A M, Wilde Arthur A M, Ackerman Michael |
| Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clinic proceedings 2012 Jun 87 (6): 524-39. Tester David J, Medeiros-Domingo Argelia, Will Melissa L, Haglund Carla M, Ackerman Michael |
| Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC cardiovascular disorders 2012 12 (1): 95. Stattin Eva-Lena, Boström Ida Maria, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg An |
| Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population. Annals of medicine 2013 Jun 45 (4): 328-35. Lahtinen Annukka M, Havulinna Aki S, Noseworthy Peter A, Jula Antti, Karhunen Pekka J, Perola Markus, Newton-Cheh Christopher, Salomaa Veikko, Kontula Kim |
| Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. Annals of laboratory medicine 2017 10 38 (1): 54-58. Seo Soo Hyun, Kim So Yeon, Cho Sung Im, Park Hyunwoong, Lee Seungjun, Choi Jong Moon, Kim Man Jin, Lee Jee Soo, Ahn Kyung Jin, Song Mi Kyoung, Bae Eun Jung, Park Sung Sup, Seong Moon W |
| Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1?- Modified Schwartz Score. Circulation journal : official journal of the Japanese Circulation Society 2018 6 82 (9): 2269-2276. Ozawa Junichi, Ohno Seiko, Fujii Yusuke, Makiyama Takeru, Suzuki Hiroshi, Saitoh Akihiko, Horie Mino |
| Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. Hong Kong medical journal = Xianggang yi xue za zhi 2018 3 24 (4): 340-349. Mak C M, Chen S Pl, Mok N S, Siu W K, Lee H Hc, Ching C K, Tsui P T, Fong N C, Yuen Y P, Poon W T, Law C Y, Chong Y K, Chan Y W, Yung T C, Fan K Yy, Lam C |
| An NGS-based genotyping in LQTS; minor genes are no longer minor. Journal of human genetics 2020 Jul . Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Mino |
| Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents. Journal of pediatric hematology/oncology 2022 5 . Wagener Rabea, Walter Carolin, Surowy Harald M, Brandes Danielle, Soura Stavrieta, Alzoubi Deya, Yasin Layal, Fischer Ute, Dugas Martin, Borkhardt Arndt, Brozou Triantafyll |
| Targeted deep sequencing analyses of long QT syndrome in a Japanese population. PloS one 2022 12 17 (12): e0277242. Nagata Yuki, Watanabe Ryo, Eichhorn Christian, Ohno Seiko, Aiba Takeshi, Ishikawa Taisuke, Nakano Yukiko, Aizawa Yoshiyasu, Hayashi Kenshi, Murakoshi Nobuyuki, Nakajima Tadashi, Yagihara Nobue, Mishima Hiroyuki, Sudo Takeaki, Higuchi Chihiro, Takahashi Atsushi, Sekine Akihiro, Makiyama Takeru, Tanaka Yoshihiro, Watanabe Atsuyuki, Tachibana Motomi, Morita Hiroshi, Yoshiura Koh-Ichiro, Tsunoda Tatsuhiko, Watanabe Hiroshi, Kurabayashi Masahiko, Nogami Akihiko, Kihara Yasuki, Horie Minoru, Shimizu Wataru, Makita Naomasa, Tanaka Toshihi |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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