MITOMAP References for Variant T>C at 11899

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Index PMID Date Reference
1 10720328 2000 Fliss, M. S., Usadel, H., Caballero, O. L., Wu, L., Buta, M. R., Eleff, S. M., Jen, J., Sidransky, D. (2000) Facile detection of mitochondrial DNA mutations in tumors and bodily fluids Science . 287 (5460): 2017-2019 .
2 11130070 2000 Ingman, M., Kaessmann, H., Paabo, S., Gyllensten, U. (2000) Mitochondrial genome variation and the origin of modern humans Nature . 408 (6813): 708-713 .
3 11349229 2001 Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 .
4 11820805 2002 Vives-Bauza, C., Andreu, A. L., Manfredi, G., Beal, M. F., Janetzky, B., Gruenewald, T. H., Lin, M. T. (2002) Sequence analysis of the entire mitochondrial genome in Parkinson's disease Biochemical and Biophysical Research Communications . 290 (5): 1593-1601 .
5 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 .
6 12509511 2003 Mishmar, D., Ruiz-Pesini, E. E., Golik, P., Macaulay, V., Clark, A. G., Hosseini, S., Brandon, M., Easley, K., Chen, E., Brown, M. D., Sukernik, R. I., Olckers, A., Wallace, D. C. (2003) Natural selection shaped regional mtDNA variation in humans Proceedings of the National Academy of Sciences of the United States of America . 100 (1): 171-176 .
7 12949126 2003 Moilanen, J. S., Finnila, S., Majamaa, K. (2003) Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J Molecular Biology and Evolution . 20 (12): 2132-2142 .
8 16172508 2006 Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L., Oefner, P. J. (2006) The role of selection in the evolution of human mitochondrial genomes Genetics . 172 (1): 373-387 .
9 16865696 2006 Accetturo, M., Santamaria, M., Lascaro, D., Rubino, F., Achilli, A., Torroni, A., Tommaseo-Ponzetta, M., Attimonelli, M. (2006) Human mtDNA site-specific variability values can act as haplogroup markers Human Mutation . 27 (9): 965-974 .
10 16985502 2007 Ingman, M., Gyllensten, U. (2007) A recent genetic link between Sami and the Volga-Ural region of Russia European Journal of Human Genetics . 15 (1): 115-120 .
11 17406640 2007 Puomila, A., Hamalainen, P., Kivioja, S., Savontaus, M. L., Koivumaki, S., Huoponen, K., Nikoskelainen, E. (2007) Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland European Journal of Human Genetics . 15 (10): 1079-1089 .
12 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 .
13 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 .
14 20003445 2009 Ricaut, F. X., Razafindrazaka, H., Cox, M. P., Dugoujon, J. M., Guitard, E., Sambo, C., Mormina, M., Mirazon-Lahr, M., Ludes, B., Crubezy, E. (2009) A new deep branch of eurasian mtDNA macrohaplogroup M reveals additional complexity regarding the settlement of Madagascar BMC Genomics . 10 (): 605 .
15 19733221 2010 Qu, J., Zhou, X., Zhao, F., Liu, X., Zhang, M., Sun, Y. H., Liang, M., Yuan, M., Liu, Q., Tong, Y., Wei, Q. P., Yang, L., Guan, M. X. (2010) Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation Biochimica et Biophysica Acta . 1800 (3): 305-312 .
16 21041797 2011 Batini, C., Lopes, J., Behar, D. M., Calafell, F., Jorde, L. B., van der Veen, L., Quintana-Murci, L., Spedini, G., Destro-Bisol, G., Comas, D. (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes Molecular Biology and Evolution . 28 (2): 1099-1110 .
17 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
18 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 .