Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 45 Records) |
Query Trace: Malignant Hyperthermia[original query] |
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[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 |
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 |
[Malignant Hyperthermia - Diagnosis in Practice]. Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS 2019 9 54 (9): 538-548. Girard Thierry, Bandschapp Oliv |
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 |
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 |
Corrigendum to "Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia". Case reports in anesthesiology 2019 12 2019 3605064. Creech Trey B, Zhang |
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 |
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC medicine 2021 8 19 (1): 199. Haverfield Eden V, Esplin Edward D, Aguilar Sienna J, Hatchell Kathryn E, Ormond Kelly E, Hanson-Kahn Andrea, Atwal Paldeep S, Macklin-Mantia Sarah, Hines Stephanie, Sak Caron W-M, Tucker Steven, Bleyl Steven B, Hulick Peter J, Gordon Ora K, Velsher Lea, Gu Jessica Y J, Weissman Scott M, Kruisselbrink Teresa, Abel Christopher, Kettles Michele, Slavotinek Anne, Mendelsohn Bryce A, Green Robert C, Aradhya Swaroop, Nussbaum Robert |
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- |
STAC3 related congenital myopathy: A case series of seven Comorian patients. European journal of medical genetics 2022 8 65 (10): 104598. Gromand Marie, Gueguen Paul, Pervillé Anne, Ferroul Fanny, Morel Godelieve, Harouna Anrifati, Doray Bérénice, Urtizberea J Andoni, Alessandri Jean-Luc, Robin Stéphan |
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nature communications 2022 6 13 (1): 3403. Endo Yukari, Groom Linda, Celik Alper, Kraeva Natalia, Lee Chang Seok, Jung Sung Yun, Gardner Lois, Shaw Marie-Anne, Hamilton Susan L, Hopkins Philip M, Dirksen Robert T, Riazi Sheila, Dowling James |
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 |
Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients. International journal of molecular sciences 2023 11 24 (22): . Leon Chang, Lois Gardner, Carol House, Catherine Daly, Adrian Allsopp, Daniel Roiz de Sa, Marie-Anne Shaw, Philip M Hopki |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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