MITOMAP References for Variant G>A at 12630

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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 11406419 2001 Finnila, S., Hassinen, I. E., Majamaa, K. (2001) Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region Mutation Research . 458 (40545): 31-39 .
3 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
4 15286228 2004 Uusimaa, J., Finnila, S., Remes, A. M., Rantala, H., Vainionpaa, L., Hassinen, I. E., Majamaa, K. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes Pediatrics . 114 (2): 443-450 .
5 15625560 2004 Piechota, J., Tonska, K., Nowak, M., Kabzinska, D., Lorenc, A., Bartnik, E. (2004) Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups Acta Biochimica Polonica . 51 (4): 883-895 .
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 16955413 2006 Young, W. Y., Zhao, L., Qian, Y., Li, R., Chen, J., Yuan, H., Dai, P., Zhai, S., Han, D., Guan, M. X. (2006) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss American Journal of Medical Genetics. Part A . 140 (20): 2188-2197 .
8 18639500 2008 Chen, J., Yuan, H., Lu, J., Liu, X., Wang, G., Zhu, Y., Cheng, J., Wang, X., Han, B., Yang, L., Yang, S., Yang, A., Sun, Q., Kang, D., Zhang, X., Dai, P., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2008) Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss Mitochondrion . 8 (4): 285-292 .
9 18691441 2008 Kumar, S., Padmanabham, P. B., Ravuri, R. R., Uttaravalli, K., Koneru, P., Mukherjee, P. A., Das, B., Kotal, M., Xaviour, D., Saheb, S. Y., Rao, V. R. (2008) The earliest settlers' antiquity and evolutionary history of Indian populations: evidence from M2 mtDNA lineage BMC Evolutionary Biology . 8 (): 230 .
10 19050702 2008 Webb, E., Broderick, P., Chandler, I., Lubbe, S., Penegar, S., Tomlinson, I. P., Houlston, R. S. (2008) Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk British Journal of Cancer . 99 (12): 2088-2093 .
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 22927010 2012 Al-Abri, A., Podgorna, E., Rose, J. I., Pereira, L., Mulligan, C. J., Silva, N. M., Bayoumi, R., Soares, P., Cerny, V. (2012) Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation American Journal of Physical Anthropology . 149 (2): 291-298 .
13 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
14 29997041 2018 Chalkia, D., Chang, Y. C., Derbeneva, O., Lvova, M., Wang, P., Mishmar, D., Liu, X. G., Singh, L. N., Chuang, L. M., Wallace, D. C. (2018) Mitochondrial DNA associations with East Asian metabolic syndrome Biochimica et Biophysica Acta 1859 (9): 878-892 .
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 .