| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 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 . |
| 2 | 16060290 | 2005 | Guo, L. J., Oshida, Y., Fuku, N., Takeyasu, T., Fujita, Y., Kurata, M., Sato, Y., Ito, M., Tanaka, M. (2005) Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity Mitochondrion . 5 (1): 15-33 . |
| 3 | 16714301 | 2006 | Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 . |
| 4 | 17341440 | 2007 | Tang, X., Yang, L., Zhu, Y., Liao, Z., Wang, J., Qian, Y., Tao, Z., Hu, L., Wu, G., Lan, J., Wang, X., Ji, J., Wu, J., Ji, Y., Feng, J., Chen, J., Li, Z., Zhang, X., Lu, J., Guan, M. X. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation Gene . 393 (40545): 11-19 . |
| 5 | 18545700 | 2008 | Bilal, E., Rabadan, R., Alexe, G., Fuku, N., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Ruckenstein, A., Bhanot, G., Tanaka, M. (2008) Mitochondrial DNA haplogroup D4a is a marker for extreme longevity in Japan PLoS One . 3 (6): e2421 . |
| 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 | 20151402 | 2010 | Bi, R., Zhang, A. M., Zhang, W., Kong, Q. P., Wu, B. L., Yang, X. H., Wang, D., Zou, Y., Zhang, Y. P., Yao, Y. G. (2010) The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells Human Mutation . 31 (5): 538-543 . |
| 8 | 21281460 | 2011 | Loo, J. H., Trejaut, J. A., Yen, J. C., Chen, Z. S., Lee, C. L., Lin, M. (2011) Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago BMC Genetics . 12 (Jan 31): 21 . |
| 9 | 22475488 | 2012 | Shen, S. S., Liu, C., Xu, Z. Y., Hu, Y. H., Gao, G. F., Wang, S. Y. (2012) Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family Biochemical and Biophysical Research Communications . 420 (4): 907-912 . |
| 10 | 23096691 | 2012 | Luo, Y. J., Gao, W. X., Li, S. Z., Huang, X. W., Chen, Y., Liu, F. Y., Huang, Q. Y., Gao, Y. Q. (2012) Mitochondrial haplogroup D4 confers resistance and haplogroup B is a genetic risk factor for high-altitude pulmonary edema among Han Chinese Genetics and Molecular Research . 11 (4): 3658-3667 . |
| 11 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 12 | 29343773 | 2018 | Koh, H., Park, G. S., Shin, S. M., Park, C. E., Kim, S., Han, S. J., Pham, H. Q., Shin, J. H., Lee, D. W. (2018) Mitochondrial mutations in cholestatic liver disease with biliary atresia Scientific Reports . 8 (1): 905 . |