MITOMAP References for Variant G>A at 11969

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Index PMID Date Reference
1 11349229 2001 Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 .
2 11424923 2001 Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K. (2001) Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln Journal of Medical Genetics . 38 (6): 400-405 .
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 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 17452034 2007 Wei, Q. P., Zhou, X., Yang, L., Sun, Y. H., Zhou, J., Li, G., Jiang, R., Lu, F., Qu, J., Guan, M. X. (2007) The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss Biochemical and Biophysical Research Communications . 357 (4): 910-916 .
8 17698030 2007 Yuan, H., Chen, J., Liu, X., Cheng, J., Wang, X., Yang, L., Yang, S., Cao, J., Kang, D., Dai, P., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2007) Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss Biochemical and Biophysical Research Communications . 362 (1): 94-100 .
9 18269758 2008 Abu-Amero, K. K., Larruga, J. M., Cabrera, V. M., Gonzalez, A. M. (2008) Mitochondrial DNA structure in the Arabian Peninsula BMC Evolutionary Biology . 8 (-): 45 .
10 18477584 2008 Malyarchuk, B., Grzybowski, T., Derenko, M., Perkova, M., Vanecek, T., Lazur, J., Gomolcak, P., Tsybovsky, I. (2008) Mitochondrial DNA phylogeny in Eastern and Western Slavs Molecular Biology and Evolution . 25 (8): 1651-1658 .
11 20627642 2010 Zhou, X., Zhang, H., Zhao, F., Ji, Y., Tong, Y., Zhang, J., Zhang, Y., Yang, L., Qian, Y., Lu, F., Qu, J., Guan, M. X. (2010) Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation Molecular Genetics and Metabolism . 100 (4): 379-384 .
12 23563965 2013 Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 .
13 24002810 2013 Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 .
14 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
15 31152278 2020 Kytovuori, L., Junttila, J., Huikuri, H., Keinanen-Kiukaanniemi, S., Majamaa, K., Martikainen, M. H. (2020) Mitochondrial DNA variation in sudden cardiac death: a population-based study International Journal of Legal Medicine . 134 (1): 39-44 .