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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 31, 2024. (Total: 233025Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: TRMU[original query]
Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
Biochemical and biophysical research communications 2009 Apr 381 (2): 210-3.
de Moraes Vanessa Cristine Sousa, Alexandrino Fabiana, Andrade Paula Baloni, Câmara Marília Fontenele, Sartorato Edi Lúc
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
Mitochondrion 2010 Jan 10 (1): 69-81.
Lu Jianxin, Qian Yaping, Li Zhiyuan, Yang Aifen, Zhu Yi, Li Ronghua, Yang Li, Tang Xiaowen, Chen Bobei, Ding Yu, Li Yongyan, You Junyan, Zheng Jing, Tao Zhihua, Zhao Fuxin, Wang Jindan, Sun Dongmei, Zhao Jianyue, Meng Yanzi, Guan Min-X
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
JAMA 2014 Jul 312 (1): 68-77.
Taylor Robert W, Pyle Angela, Griffin Helen, Blakely Emma L, Duff Jennifer, He Langping, Smertenko Tania, Alston Charlotte L, Neeve Vivienne C, Best Andrew, Yarham John W, Kirschner Janbernd, Schara Ulrike, Talim Beril, Topaloglu Haluk, Baric Ivo, Holinski-Feder Elke, Abicht Angela, Czermin Birgit, Kleinle Stephanie, Morris Andrew A M, Vassallo Grace, Gorman Grainne S, Ramesh Venkateswaran, Turnbull Douglass M, Santibanez-Koref Mauro, McFarland Robert, Horvath Rita, Chinnery Patrick
Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Genetic testing and molecular biomarkers 2015 Jan 19 (1): 52-8.
Qing Jie, Zhou Yuan, Lai Ruosha, Hu Peng, Ding Yan, Wu Weijing, Xiao Zian, Ho Phi T, Liu Yuyuan, Liu Jia, Du Lilin, Yan Denise, Goldstein Bradley J, Liu Xuezhong, Xie Dingh
The Mitochondrial COI/tRNA G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.
Balkan journal of medical genetics : BJMG 2018 6 20 (2): 43-50.
Y Ding, B-H Xia, Y-S Teng, G-C Zhuo, J-H Le
Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.
Molecular medicine reports 2018 Sep .
Cui Yong, He Duan-J
[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?].
Harefuah 2018 1 157 (1): 52-57.
Gil-Margolis Merav, Mozer-Glassberg Yael, Tobar Ana, Ashkenazi Shai, Zeharia Avraham, Marom Daph
Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus.
International journal of general medicine 2021 9 14 5719-5735.
Lin Liangyan, Zhang Dongdong, Jin Qingsong, Teng Yaqin, Yao Xiaoyan, Zhao Tiantian, Xu Xinmiao, Jin Yongj
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genetics in medicine : official journal of the American College of Medical Genetics 2022 10 .
Vogel Georg F, Mozer-Glassberg Yael, Landau Yuval E, Schlieben Lea D, Prokisch Holger, Feichtinger René G, Mayr Johannes A, Brennenstuhl Heiko, Schröter Julian, Pechlaner Agnes, Alkuraya Fowzan S, Baker Joshua J, Barcia Giulia, Baric Ivo, Braverman Nancy, Burnyte Birute, Christodoulou John, Ciara Elzbieta, Coman David, Das Anibh M, Darin Niklas, Della Marina Adela, Distelmaier Felix, Eklund Erik A, Ersoy Melike, Fang Weiyan, Gaignard Pauline, Ganetzky Rebecca D, Gonzales Emmanuel, Howard Caoimhe, Hughes Joanne, Konstantopoulou Vassiliki, Kose Melis, Kerr Marina, Khan Aneal, Lenz Dominic, McFarland Robert, Margolis Merav Gil, Morrison Kevin, Müller Thomas, Murayama Kei, Nicastro Emanuele, Pennisi Alessandra, Peters Heidi, Piekutowska-Abramczuk Dorota, Rötig Agnès, Santer René, Scaglia Fernando, Schiff Manuel, Shagrani Mohmmad, Sharrard Mark, Soler-Alfonso Claudia, Staufner Christian, Storey Imogen, Stormon Michael, Taylor Robert W, Thorburn David R, Teles Elisa Leao, Wang Jian-She, Weghuber Daniel, Wortmann Sask
Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas.
Scientific reports 2024 5 14 (1): 10514.
Raiyan R Khan, Rafael F Guerrero, Ronald J Wapner, Matthew W Hahn, Anita Raja, Ansaf Salleb-Aouissi, William A Grobman, Hyagriv Simhan, Robert M Silver, Judith H Chung, Uma M Reddy, Predrag Radivojac, Itsik Pe'er, David M Ha
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