Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Malignant Hyperthermia and CACNA1S[original query] |
---|
Increasing the number of diagnostic mutations in malignant hyperthermia. Human mutation 2009 Apr 30 (4): 590-8. Levano Soledad, Vukcevic Mirko, Singer Martine, Matter Anja, Treves Susan, Urwyler Albert, Girard Thier |
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 |
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, |
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 |
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 |
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 |
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 |
PharmGKB summary: very important pharmacogene information for CACNA1S. Pharmacogenetics and genomics 2019 12 30 (2): 34-44. Sangkuhl Katrin, Dirksen Robert T, Alvarellos Maria L, Altman Russ B, Klein Teri |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: