Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: 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 |
Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population. Forensic science international 2014 Feb 235 14-8. Huang Lei, Liu Chao, Tang Shuangbo, Su Terry, Cheng Jiandi |
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. European journal of human genetics : EJHG 2015 Sep . Hertz Christin Loeth, Christiansen Sofie Lindgren, Larsen Maiken Kudahl, Dahl Morten, Ferrero-Miliani Laura, Weeke Peter Ejvind, Pedersen Oluf, Hansen Torben, Grarup Niels, Ottesen Gyda Lolk, Frank-Hansen Rune, Banner Jytte, Morling Nie |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2). Molecular and cellular endocrinology 2016 Sep . Fejzo Marlena Schoenberg, Myhre Ronny, Colodro-Conde Lucía, MacGibbon Kimber W, Sinsheimer Janet S, Reddy M V Prasad Linga, Pajukanta Päivi, Nyholt Dale R, Wright Margaret J, Martin Nicholas G, Engel Stephanie M, Medland Sarah E, Magnus Per, Mullin Patrick |
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Scientific reports 2016 6 19088. Soueid Jihane, Kourtian Silva, Makhoul Nadine J, Makoukji Joelle, Haddad Sariah, Ghanem Simona S, Kobeissy Firas, Boustany Rose-Ma |
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 |
Novel West syndrome candidate genes in a Chinese cohort. CNS neuroscience & therapeutics 2018 4 24 (12): 1196-1206. Peng Jing, Wang Ying, He Fang, Chen Chen, Wu Li-Wen, Yang Li-Fen, Ma Yu-Ping, Zhang Wen, Shi Zi-Qing, Chen Chao, Xia Kun, Guo Hui, Yin Fei, Pang N |
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 |
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. Journal of the American College of Cardiology 2018 Mar 71 (11): 1217-1227. Tester David J, Wong Leonie C H, Chanana Pritha, Jaye Amie, Evans Jared M, FitzPatrick David R, Evans Margaret J, Fleming Peter, Jeffrey Iona, Cohen Marta C, Tfelt-Hansen Jacob, Simpson Michael A, Behr Elijah R, Ackerman Michael |
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2018 1 20 (10): 1675-1682. Inoue Yuko Y, Aiba Takeshi, Kawata Hiro, Sakaguchi Tomoko, Mitsuma Wataru, Morita Hiroshi, Noda Takashi, Takaki Hiroshi, Toyohara Keiko, Kanaya Yoshiaki, Itoi Toshiyuki, Mitsuhashi Takeshi, Sumitomo Naokata, Cho Yongkeun, Yasuda Satoshi, Kamakura Shiro, Kusano Kengo, Miyamoto Yoshihiro, Horie Minoru, Shimizu Wata |
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy. BMC cardiovascular disorders 2019 Jul 19 (1): 174. Raju Hariharan, Ware James S, Skinner Jonathan R, Hedley Paula L, Arno Gavin, Love Donald R, van der Werf Christian, Tfelt-Hansen Jacob, Winkel Bo Gregers, Cohen Marta C, Li Xinzhong, John Shibu, Sharma Sanjay, Jeffery Steve, Wilde Arthur A M, Christiansen Michael, Sheppard Mary N, Behr Elijah |
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 |
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies. Circulation. Genomic and precision medicine 2020 12 14 (1): e003126. Theis Jeanne L, Hu Jessie J, Sundsbak Rhianna S, Evans Jared M, Bamlet William R, Qureshi M Yasir, O'Leary Patrick W, Olson Timothy |
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome. Circulation. Genomic and precision medicine 2021 12 15 (1): e003589. Ormerod Julian O M, Ormondroyd Elizabeth, Li Yanhui, Taylor John, Wei Jinhong, Guo Wenting, Wang Ruiwu, Sarton Caroline N S, McGuire Karen, Dreau Helene M P, Taylor Jenny C, Ginks Matthew R, Rajappan Kim, Chen S R Wayne, Watkins Hu |
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 |
Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program. Journal of community genetics 2022 10 13 (6): 629-639. Siskind Tamar, Williams Nori, Sebastin Monisha, Marion Robert, McDonald Thomas V, Walsh Christine, Sampson Barbara, Tang Yingying, Clark Bradley |
Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population. BMC cardiovascular disorders 2023 6 23 (1): 335. Yuexin Hu, Liangli Jin, Zhi Wa |
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- Page last updated:Apr 16, 2024
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