Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: MTM1[original query] |
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Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2010 May 118 (5): 389-93. Song Sang Yong, Kang Mi Ran, Yoo Nam Jin, Lee Sug Hyu |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 Oct 81 (14): 1205-14. Ceyhan-Birsoy Ozge, Agrawal Pankaj B, Hidalgo Carlos, Schmitz-Abe Klaus, DeChene Elizabeth T, Swanson Lindsay C, Soemedi Rachel, Vasli Nasim, Iannaccone Susan T, Shieh Perry B, Shur Natasha, Dennison Jane M, Lawlor Michael W, Laporte Jocelyn, Markianos Kyriacos, Fairbrother William G, Granzier Henk, Beggs Alan |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. Neuromuscular disorders : NMD 2016 Feb . Savarese Marco, Musumeci Olimpia, Giugliano Teresa, Rubegni Anna, Fiorillo Chiara, Fattori Fabiana, Torella Annalaura, Battini Roberta, Rodolico Carmelo, Pugliese Aniello, Piluso Giulio, Maggi Lorenzo, D'Amico Adele, Bruno Claudio, Bertini Enrico, Santorelli Filippo Maria, Mora Marina, Toscano Antonio, Minetti Carlo, Nigro Vincen |
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 10 43 (4): 2803-2811. Wang Qi, Yu Meng, Xie Zhiying, Liu Jing, Wang Qingqing, Lv He, Zhang Wei, Yuan Yun, Wang Zhaox |
Integrative analysis of CBR1 as a prognostic factor associated with IDH-mutant glioblastoma in the Chinese population. American journal of translational research 2022 9 14 (8): 5394-5408. Ji Pengxiang, Shan Xueshi, Wang Jian, Zhang Ping, Cai Zh |
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International journal of molecular sciences 2023 5 24 (9): . Polina Chausova, Aysylu Murtazina, Anna Stepanova, Artem Borovicov, Valeriia Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana Ryzhkova, Aleksander Poliak |
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes 2023 12 14 (12): . Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G Feichtinger, Johannes A Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa We |
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- Page last updated:Apr 22, 2024
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