MITOMAP References for Variant C>T at 13680

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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 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 .
3 12802679 2003 Lehtonen, M. S., Moilanen, J. S., Majamaa, K. (2003) Increased variation in mtDNA in patients with familial sensorineural hearing impairment Human Genetics . 113 (3): 220-227 .
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 15382008 2004 Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 .
6 15608681 2005 Abu-Amero, K. K., Alzahrani, A. S., Zou, M., Shi, Y. (2005) High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines Oncogene . 24 (8): 1455-1460 .
7 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 .
8 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 .
9 19220304 2009 Zaki, E. A., Freilinger, T., Klopstock, T., Baldwin, E. E., Heisner, K. R., Adams, K., Dichgans, M., Wagler, S., Boles, R. G. (2009) Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome Cephalalgia . 29 (7): 719-728 .
10 19340307 2009 Alvarez-Iglesias, V., Mosquera-Miguel, A., Cerezo, M., Quintans, B., Zarrabeitia, M. T., Cusco, I., Lareu, M. V., Garcia, O., Perez-Jurado, L., Carracedo, A., Salas, A. (2009) New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0 PLoS One . 4 (4): e5112 .
11 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 .
12 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
13 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 .