MITOMAP References for Variant C>T at 15833

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Index PMID Date Reference
1 9461455 1998 Rieder, M.J., Taylor, S.L., Tobe, V.O., Nickerson, D.A. (1998) Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome Nucleic Acids Research . 26 (4): 967-973 .
2 11349229 2001 Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 .
3 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 .
4 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 .
5 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 .
6 14760490 2004 Coble, M. D., Just, R. S., O'Callaghan, J. E., Letmanyi, I. H., Peterson, C. T., Irwin, J. A., Parsons, T. J. (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians International Journal of Legal Medicine . 118 (3): 137-146 .
7 16721903 2006 Brandstatter, A., Salas, A., Niederstatter, H., Gassner, C., Carracedo, A., Parson, W. (2006) Dissection of mitochondrial superhaplogroup H using coding region SNPs Electrophoresis . 27 (13): 2541-2550
8 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 .
9 17967805 2008 Hudson, G., Mowbray, C., Elson, J. L., Jacob, A., Boggild, M., Torroni, A., Chinnery, P. F. (2008) Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)? Brain . 131 (Pt 4): e93 .
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 19151382 2009 Udar, N., Atilano, S. R., Memarzadeh, M., Boyer, D. S., Chwa, M., Lu, S., Maguen, B., Langberg, J., Coskun, P., Wallace, D. C., Nesburn, A. B., Khatibi, N., Hertzog, D., Le, K., Hwang, D., Kenney, M. C. (2009) Mitochondrial DNA haplogroups associated with age-related macular degeneration Investigative Ophthalmology and Visual Science . 50 (6): 2966-2974 .
12 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 .
13 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 .
14 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 .
15 20566709 2010 Gomez-Duran, A., Pacheu-Grau, D., Lopez-Gallardo, E., Diez-Sanchez, C., Montoya, J., Lopez-Perez, M. J., Ruiz-Pesini, E. (2010) Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups Human Molecular Genetics . 19 (17): 3343-3353 .
16 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
17 24200652 2014 Kenney, M. C., Chwa, M., Atilano, S. R., Falatoonzadeh, P., Ramirez, C., Malik, D., Tarek, M., Del Carpio, J. C., Nesburn, A. B., Boyer, D. S., Kuppermann, B. D., Vawter, M. P., Jazwinski, S. M., Miceli, M. V., Wallace, D. C., Udar, N. (2014) Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: Implications for population susceptibility to diseases Biochimica et Biophysica Acta . 1842 (2): 208-219 .