Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Contracture and RYR1[original query] |
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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta anaesthesiologica Scandinavica 2002 Jul 46 (6): 692-8. Rueffert Henrik, Olthoff D, Deutrich C, Meinecke C D, Froster U |
Genetic variation in RYR1 and malignant hyperthermia phenotypes. British journal of anaesthesia 2009 Oct 103 (4): 538-48. Carpenter D, Robinson R L, Quinnell R J, Ringrose C, Hogg M, Casson F, Booms P, Iles D E, Halsall P J, Steele D S, Shaw M-A, Hopkins P |
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesthesia and analgesia 2013 May 116 (5): 1078-86. Brandom Barbara W, Bina Saiid, Wong Cynthia A, Wallace Tarina, Visoiu Mihaela, Isackson Paul J, Vladutiu Georgirene D, Sambuughin Nyamkhishig, Muldoon Sheila |
[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia]. Der Anaesthesist 2014 Sep 63 (8-9): 643-50. Wolak S, Rücker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, Tzanova |
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet journal of rare diseases 2014 9 8. Klingler Werner, Heiderich Sebastian, Girard Thierry, Gravino Elvira, Heffron James Ja, Johannsen Stephan, Jurkat-Rott Karin, Rüffert Henrik, Schuster Frank, Snoeck Marc, Sorrentino Vincenzo, Tegazzin Vincenzo, Lehmann-Horn Fra |
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular disorders : NMD 2015 Jul 25 (7): 567-76. Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi |
Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia. Anaesthesia and intensive care 2016 Nov 44 (6): 762-768. Bjorksten A R, Gillies R L, Hockey B M, Du Sart |
Investigating the genetic susceptibility to exertional heat illness. Journal of medical genetics 2020 Feb . Gardner Lois, Miller Dorota M, Daly Catherine, Gupta Pawan K, House Carol, Roiz de Sa Daniel, Shaw Marie-Anne, Hopkins Philip |
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance. Scientific reports 2021 2 11 (1): 3445. Hoppe Kerstin, Jurkat-Rott Karin, Kranepuhl Stefanie, Wearing Scott, Heiderich Sebastian, Merlak Sonja, Klingler Wern |
Rapid screening for mutations associated with malignant hyperthermia using high-resolution melting curve analysis. Tzu chi medical journal 2021 11 33 (4): 399-405. Su I-Min, Wang Po-Kai, Chen Chun-Yu, Huang Hsien-Tse, Day Yuan- |
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing. Anesthesiology 2022 3 136 (6): 940-953. van den Bersselaar Luuk R, Hellblom Anna, Gashi Mejdan, Kamsteeg Erik-Jan, Voermans Nicol C, Jungbluth Heinz, de Puydt Joris, Heytens Luc, Riazi Sheila, Snoeck Marc M |
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia. British journal of anaesthesia 2022 10 129 (6): 879-888. White Ruth, Schiemann Anja H, Burling Sophie M, Bjorksten Andrew, Bulger Terasa, Gillies Robyn, Hopkins Philip M, Kamsteeg Erik-Jan, Machon Roslyn G, Massey Sean, Miller Dorota, Perry Margaret, Snoeck Marc M J, Stephens Jeremy, Street Neil, van den Bersselaar Luuk R, Stowell Kathryn |
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- Page last updated:Apr 22, 2024
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