Index | PMID | Date | Reference |
---|---|---|---|
1 | 11079536 | 2000 | Thyagarajan, D., Bressman, S., Bruno, C., Przedborski, S., Shanske, S., Lynch, T., Fahn, S., DiMauro, S. (2000) A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy Annals of Neurology . 48 (5): 730-736 . |
2 | 11313749 | 2001 | Tessa, A., Giannotti, A., Tieri, L., Vilarinho, L., Marotta, G., Santorelli, F. M. (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA European Journal of Human Genetics . 9 (2): 147-149 . |
3 | 15555598 | 2004 | Zhao, L., Young, W. Y., Li, R., Wang, Q., Qian, Y., Guan, M. X. (2004) Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation Biochemical and Biophysical Research Communications . 325 (4): 1503-1508 . |
4 | 15637703 | 2005 | Wang, Q., Li, R., Zhao, H., Peters, J. L., Liu, Q., Yang, L., Han, D., Greinwald, J. H., Jr., Young, W. Y., Guan, M. X. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation American Journal of Medical Genetics . 133A (1): 27-30 . |
5 | 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 . |
6 | 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 . |
7 | 16875663 | 2006 | Dai, P., Yuan, Y., Huang, D., Qian, Y., Liu, X., Han, D., Yuan, H., Wang, X., Young, W. Y., Guan, M. X. (2006) Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families Biochemical and Biophysical Research Communications . 348 (1): 200-205 . |
8 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
9 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
10 | 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 . |
11 | 19144107 | 2009 | Bardien, S., Human, H., Harris, T., Hefke, G., Veikondis, R., Schaaf, H. S., van der Merwe, L., Greinwald, J. H., Fagan, J., de Jong, G. (2009) A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness BMC Medical Genetics . 10 (-): 2 . |
12 | 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 . |
13 | 21495045 | 2011 | Ealy, M., Lynch, K. A., Meyer, N. C., Smith, R. J. (2011) The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population Laryngoscope . 121 (6): 1184-1186 . |