| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 2124116 | 1990 | Yoneda, M., Tanno, Y., Horai, S., Ozawa, T., Miyatake, T., Tsuji, S. (1990) A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers Biochemistry International . 21 (5): 789-796 . |
| 2 | 2025303 | 1991 | Ozawa, T., Tanaka, M., Ino, H., Ohno, K., Sano, T., Wada, Y., Yoneda, M., Tanno, Y., Miyatake, T., Tanaka, T., Itoyama, S., Ikebe, S., Hattori, N., Mizuno, Y. (1991) Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease Biochemical and Biophysical Research Communications . 176 (2): 938-946 . |
| 3 | 7806218 | 1994 | Tanaka, M., Ozawa, T. (1994) Strand asymmetry in human mitochondrial DNA mutations Genomics . 22 (2): 327-335 . |
| 4 | 7874114 | 1994 | Lertrit, P., Kapsa, R.M.I., Jean-Francois, M.J.B., Thyagarajan, D., Noer, A.S., Marzuki, S., Byrne, E. (1994) Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction Human Molecular Genetics . 3 (11): 1973-1981 . |
| 5 | 15638829 | 2005 | Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 . |
| 6 | 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 . |
| 7 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
| 8 | 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 . |
| 9 | 19167085 | 2009 | Qu, J., Zhou, X., Zhang, J., Zhao, F., Sun, Y. H., Tong, Y., Wei, Q. P., Cai, W., Yang, L., West, C. E., Guan, M. X. (2009) Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation Ophthalmology . 116 (3): 558-564 e3 . |
| 10 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 11 | 19818876 | 2010 | Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 . |
| 12 | 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 . |
| 13 | 21978175 | 2011 | Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 . |
| 14 | 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 . |
| 15 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 16 | 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 . |