MITOMAP References for RNA Mutation T961C

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Index PMID Date Reference
1 7550368 1995 Bacino, C., Prezant, T. R., Bu, X., Fournier, P., Fischel-Ghodsian, N. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness Pharmacogenetics . 5 (3): 165-172 .
2 15841390 2005 Li, Z., Li, R., Chen, J., Liao, Z., Zhu, Y., Qian, Y., Xiong, S., Heman-Ackah, S., Wu, J., Choo, D. I., Guan, M. X. (2005) Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss Human Genetics . 117 (1): 9-15 .
3 16528519 2006 Yao, Y. G., Salas, A., Bravi, C. M., Bandelt, H. J. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment Human Genetics . 119 (5): 505-515 .
4 18325329 2008 Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., Charfeddine, I., Fakhfakh, F. (2008) New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss Biochemical and Biophysical Research Communications . 369 (3): 849-852 .
5 19371214 2009 Rydzanicz, M., Wrobel, M., Cywinska, K., Froehlich, D., Gawecki, W., Szyfter, W., Szyfter, K. (2009) Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes Genetic Testing and Molecular Biomarkers . 13 (2): 167-172 .
6 20100600 2010 Lu, J., Li, Z., Zhu, Y., Yang, A., Li, R., Zheng, J., Cai, Q., Peng, G., Zheng, W., Tang, X., Chen, B., Chen, J., Liao, Z., Yang, L., Li, Y., You, J., Ding, Y., Yu, H., Wang, J., Sun, D., Zhao, J., Xue, L., Wang, J., Guan, M. X. (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Mitochondrion . 10 (4): 380-390 .
7 17489842 2007 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
8 29336589 2018 Celie, B. M., Mariman, A., Boone, J., Delesie, L., Tobback, E., Seneca, S., De Paepe, B., Vogelaers, D., Van Coster, R. N., Bourgois, J. G. (2018) Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue: a preliminary study Applied Spectroscopy . 72 (5): 715-724 .
9 27654872 2016 Barbarino, J. M., McGregor, T. L., Altman, R. B., Klein, T. E. (2016) PharmGKB summary: very important pharmacogene information for MT-RNR1 Pharmacogenetics and Genomics . 26 (12): 558-567 .