Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and RYR1[original query] |
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| Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. Anesthesiology 2004 Oct 101 (4): 824-30. Sei Yoshitatsu, Sambuughin Nyamkhishig N, Davis Edward J, Sachs Daniel, Cuenca Phil B, Brandom Barbara W, Tautz Timothy, Rosenberg Henry, Nelson Thomas E, Muldoon Sheila |
| Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005 12 65 (12): 1930-5. Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb S A, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry C A, Müller C, Muntoni |
| Analysis of RYR1 haplotype profile in patients with malignant hyperthermia. Annals of human genetics 2009 Jan 73 (1): 10-8. Carpenter D, Morris A, Robinson R L, Booms P, Iles D, Halsall P J, Steele D, Hopkins P M, Shaw M |
| 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 |
| 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 |
| A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia. Journal of the neurological sciences 2015 Sep 356 (1-2): 142-7. Sano Ken, Miura Shiroh, Fujiwara Toshiya, Fujioka Ryuta, Yorita Akiko, Noda Kazuhito, Kida Hiroshi, Azuma Koichi, Kaieda Shinjiro, Yamamoto Ken, Taniwaki Takayuki, Fukumaki Yasuyuki, Shibata Hiro |
| 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 |
| De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS genetics 2016 Apr 12 (4): e1005963. Priest James R, Osoegawa Kazutoyo, Mohammed Nebil, Nanda Vivek, Kundu Ramendra, Schultz Kathleen, Lammer Edward J, Girirajan Santhosh, Scheetz Todd, Waggott Daryl, Haddad Francois, Reddy Sushma, Bernstein Daniel, Burns Trudy, Steimle Jeffrey D, Yang Xinan H, Moskowitz Ivan P, Hurles Matthew, Lifton Richard P, Nickerson Debbie, Bamshad Michael, Eichler Evan E, Mital Seema, Sheffield Val, Quertermous Thomas, Gelb Bruce D, Portman Michael, Ashley Euan |
| Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort. Muscle & nerve 2016 Jan . Zhao Yan, Hu Jing, Zhao Zhe, Shen Hongrui, Bing Qi, Li N |
| 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 |
| Germline mutations in young non-smoking women with lung adenocarcinoma. Lung cancer (Amsterdam, Netherlands) 2018 7 122 76-82. Donner Iikki, Katainen Riku, Sipilä Lauri J, Aavikko Mervi, Pukkala Eero, Aaltonen Lauri |
| Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. Circulation research 2019 Feb 124 (4): 553-563. Page Donna J, Miossec Matthieu J, Williams Simon G, Monaghan Richard M, Fotiou Elisavet, Cordell Heather J, Sutcliffe Louise, Topf Ana, Bourgey Mathieu, Bourque Guillaume, Eveleigh Robert, Dunwoodie Sally L, Winlaw David S, Bhattacharya Shoumo, Breckpot Jeroen, Devriendt Koenraad, Gewillig Marc, Brook J David, Setchfield Kerry J, Bu'Lock Frances A, O'Sullivan John, Stuart Graham, Bezzina Connie R, Mulder Barbara J M, Postma Alex V, Bentham James R, Baron Martin, Bhaskar Sanjeev S, Black Graeme C, Newman William G, Hentges Kathryn E, Lathrop G Mark, Santibanez-Koref Mauro, Keavney Bernard |
| 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 |
| Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. Journal of neuromuscular diseases 2019 5 6 (2): 241-258. Westra Dineke, Schouten Meyke I, Stunnenberg Bas C, Kusters Benno, Saris Christiaan G J, Erasmus Corrie E, van Engelen Baziel G, Bulk Saskia, Verschuuren-Bemelmans Corien C, Gerkes E H, de Geus Christa, van der Zwaag P A, Chan Sophelia, Chung Brian, Barge-Schaapveld Daniela Q C M, Kriek Marjolein, Sznajer Yves, van Spaendonck-Zwarts Karin, van der Kooi Anneke J, Krause Amanda, Schönewolf-Greulich Bitten, de Die-Smulders Christine, Sallevelt Suzanne C E H, Krapels Ingrid P C, Rasmussen Magnhild, Maystadt Isabelle, Kievit Anneke J A, Witting Nanna, Pennings Maartje, Meijer Rowdy, Gillissen Christian, Kamsteeg Erik-Jan, Voermans Nicol |
| Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. The Journal of molecular diagnostics : JMD 2019 3 21 (3): 503-513. Schoonen Maryke, Smuts Izelle, Louw Roan, Elson Joanna L, van Dyk Etresia, Jonck Lindi-Maryn, Rodenburg Richard J T, van der Westhuizen Francois |
| 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 |
| Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes 2020 5 11 (5): . Gonzalez-Quereda Lidia, Rodriguez Maria Jose, Diaz-Manera Jordi, Alonso-Perez Jorge, Gallardo Eduard, Nascimento Andres, Ortez Carlos, Natera-de Benito Daniel, Olive Montse, Gonzalez-Mera Laura, Munain Adolfo Lopez de, Zulaica Miren, Poza Juan Jose, Jerico Ivonne, Torne Laura, Riera Pau, Milisenda Jose, Sanchez Aurora, Garrabou Gloria, Llano Isabel, Madruga-Garrido Marcos, Gallano P |
| CSMD3 is Associated with Tumor Mutation Burden and Immune Infiltration in Ovarian Cancer Patients. International journal of general medicine 2021 14 7647-7657. Lu Nan, Liu Jinhui, Xu Mengting, Liang Jianqiang, Wang Yichun, Wu Zhipeng, Xing Yan, Diao Feiya |
| 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 |
| Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone. Frontiers in endocrinology 2022 3 13 850462. Tao Xiaohui, Liu Li, Yang Xingguang, Wei Zhe, Chen Zhongzhong, Zhang Ge, Zhang Zhenlin, Yue H |
| 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 |
| Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe. Breast cancer research and treatment 2024 10 . Lalawmpuii Pachuau, H Lalremmawia, Lalengkimi Ralte, Johan Vanlalpeka, Jeremy Lalrinsanga Pautu, Saia Chenkual, Thomas Zomuana, Sailo Tlau Lalruatfela, John Zohmingthanga, Lalchhandama Chhakchhuak, Ashok K Varma, Nachimuthu Senthil Kum |
- Page last reviewed:Feb 1, 2024
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