Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Hyperthermia and RYR1[original query] |
---|
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 |
The role of CACNA1S in predisposition to malignant hyperthermia. BMC medical genetics 2009 10 (1): 104. Carpenter Danielle, Ringrose Christopher, Leo Vincenzo, Morris Andrew, Robinson Rachel L, Halsall P Jane, Hopkins Philip M, Shaw Marie-An |
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Molecular genetics and metabolism 0 104 (1-2): 167-73. Vladutiu Georgirene D, Isackson Paul J, Kaufman Kenneth, Harley John B, Cobb Beth, Christopher-Stine Lisa, Wortmann Robert |
JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. Human mutation 2013 Jan 34 (1): 184-90. Yasuda Toshimichi, Delbono Osvaldo, Wang Zhong-Min, Messi Maria L, Girard Thierry, Urwyler Albert, Treves Susan, Zorzato Frances |
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 |
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology 2013 Nov 119 (5): 1043-53. Gonsalves Stephen G, Ng David, Johnston Jennifer J, Teer Jamie K, Stenson Peter D, Cooper David N, Mullikin James C, Biesecker Leslie G, |
[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 |
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology 2015 May 122 (5): 1033-46. Fiszer Dorota, Shaw Marie-Anne, Fisher Nickla A, Carr Ian M, Gupta Pawan K, Watkins Elizabeth J, Roiz de Sa Daniel, Kim Jerry H, Hopkins Philip |
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 |
High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2017 Jul . Coburger Jan, Kapapa Thomas, Wirtz Cristian Rainer, Jurkat-Rott Karin, Klingler Wern |
Genetic epidemiology of malignant hyperthermia in the UK. British journal of anaesthesia 2018 9 121 (4): 944-952. Miller D M, Daly C, Aboelsaod E M, Gardner L, Hobson S J, Riasat K, Shepherd S, Robinson R L, Bilmen J G, Gupta P K, Shaw M-A, Hopkins P |
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. Acta neurologica Scandinavica 2018 4 137 (5): 452-461. Witting N, Laforêt P, Voermans N C, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg E-J, Poulsen N S, Dahlqvist J R, Romero N B, Fauré J, Vissing J, Behin |
Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. Molecular genetics and genomics : MGG 2018 3 293 (4): 919-929. Jain Abhinav, Gandhi Shrey, Koshy Remya, Scaria Vin |
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study. Neuromuscular disorders : NMD 2018 12 29 (1): 30-38. van Ruitenbeek E, Custers J A E, Verhaak C, Snoeck M, Erasmus C E, Kamsteeg E J, Schouten M I, Coleman C, Treves S, Van Engelen B G, Jungbluth H, Voermans N |
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. Clinical pharmacology and therapeutics 2018 12 105 (6): 1338-1344. Gonsalves Stephen G, Dirksen Robert T, Sangkuhl Katrin, Pulk Rebecca, Alvarellos Maria, Vo Teresa, Hikino Keiko, Roden Dan, Klein Teri E, Poler S Mark, Patel Sephalie, Caudle Kelly E, Gordon Ronald, Brandom Barbara, Biesecker Leslie |
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. Journal of anesthesia 2018 Jan . Kondo Takashi, Yasuda Toshimichi, Mukaida Keiko, Otsuki Sachiko, Kanzaki Rieko, Miyoshi Hirotsugu, Hamada Hiroshi, Nishino Ichizo, Kawamoto Masas |
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants. Pharmacogenomics 2019 9 20 (14): 989-1003. Sadhasivam Senthilkumar, Brandom Barbara W, Henker Richard A, McAuliffe John |
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations. Anesthesiology 2019 Jun . Ibarra Moreno Carlos A, Hu Sally, Kraeva Natalia, Schuster Frank, Johannsen Stephan, Rueffert Henrik, Klingler Werner, Heytens Luc, Riazi Shei |
Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report. Annals of medicine and surgery (2012) 2019 11 48 88-90. Nguyen Tran-Thuy, Le Ngoc-Thanh, Nguyen Thuy-Mau Thi, Nguyen Huy-Hoang, Nguyen Kim-Lien Thi, Dinh Long Doan, Nguyen The-Binh, Do Anh Tien, Nguyen Cong Huu, Nguyen Trung-Hieu, Pham Hong-Nhung Thi, Vu Thom T |
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia. Journal of the Formosan Medical Association = Taiwan yi zhi 2020 9 120 (2): 883-892. Yeh Huei-Ming, Liao Min-Hua, Chu Chun-Lin, Lin Yin-Hung, Sun Wei-Zen, Lai Ling-Ping, Chen Pei-Lu |
Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia. Journal of anesthesia 2020 6 34 (5): 658-665. Noda Yuko, Yasuda Toshimichi, Kanzaki Rieko, Miyoshi Hirotsugu, Mukaida Keiko, Kamiya Satoshi, Morio Atsushi, Hamada Hiroshi, Kawamoto Masashi, Tsutsumi Yasuo |
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 |
BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis. European journal of anaesthesiology 2020 Nov . Gonzalez Asensio, Girard Thierry, Dell-Kuster Salome, Urwyler Albert, Bandschapp Oliv |
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- |
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population. Scientific reports 2022 4 12 (1): 5429. Foo Claribel Tian Yu, To Yi Hui, Irwanto Astrid, Ng Alvin Yu-Jin, Yan Benedict, Chew Sophia Tsong Huey, Liu Jianjun, Ti Lian K |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: