Index | PMID | Date | Reference |
---|---|---|---|
1 | 6311667 | 1983 | Cann, R.L., Wilson, A.C. (1983) Length mutations in human mitochondrial DNA Genetics . 104 (4): 699-711 . |
2 | 2881260 | 1987 | Wrischnik, L.A., Higuchi, R.G., Stoneking, M., Erlich, H.A., Arnheim, N., Wilson, A.C. (1987) Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA Nucleic Acids Research . 15 (-): 529-542 . |
3 | 2929595 | 1989 | Hertzberg, M., Mickleson, K.N.P., Serjeantson, S.W., Prior, J.F., Trent, R.J. (1989) An Asian specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians American Journal of Human Genetics . 44 (4): 504-510 . |
4 | 1968708 | 1990 | Schurr, T.G., Ballinger, S.W., Gan, Y.Y., Hodge, J.A., Merriwether, D.A., Lawrence, D.N., Knowler, W.C., Weiss, K.M., Wallace, D.C. (1990) Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages American Journal of Human Genetics . 46 (3): 613-623 . |
5 | 1346259 | 1992 | Ballinger, S.W., Schurr, T.G., Torroni, A., Gan, Y.Y., Hodge, J.A., Hassan, K., Chen, K.H., Wallace, D.C. (1992) Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations [published erratum appears in Genetics 1992 Apr;130(4):957] Genetics . 130 (1): 139-152 . |
6 | 1346260 | 1992 | Torroni, A., Schurr, T.G., Yang, C.-C., Szathmary, E.J., Williams, R.C., Schanfield, M.S., Troup, G.A., Knowler, W.C., Lawrence, D.N., Weiss, K.M. (1992) Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations Genetics . 130 (1): 153-162 . |
7 | 1351474 | 1992 | Wallace, D.C., Torroni, A. (1992) American Indian prehistory as written in the mitochondrial DNA: a review Human Biology . 64 (-): 403-416 . |
8 | 1550120 | 1992 | Shields, G.F., Hecker, K., Voevoda, M.I., Reed, J.K. (1992) Absence of the Asian-specific region V mitochondrial marker in native Beringians American Journal of Human Genetics . 50 (4): 758-765 . |
9 | 1559687 | 1992 | Harihara, S., Hirai, M., Suutou, Y., Shimizu, K., Omoto, K. (1992) Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations Human Biology . 64 (2): 161-166 . |
10 | 7688932 | 1993 | Torroni, A., Schurr, T.G., Cabell, M.F., Brown, M.D., Neel, J.V., Larsen, M., Smith, D.G., Vullo, C.M., Wallace, D.C. (1993) Asian affinities and continental radiation of the four founding Native American mtDNAs American Journal of Human Genetics . 53 (3): 563-590 . |
11 | 7688933 | 1993 | Torroni, A., Sukernik, R.I., Schurr, T.G., Starikovskaya, Y.B., Cabell, M.F., Crawford, M.H., Comuzzie, A.G., Wallace, D.C. (1993) MtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans American Journal of Human Genetics . 53 (3): 591-608 . |
12 | 8102506 | 1993 | Passarino, G., Semino, O., Modiano, G., Santachiara-Benerecetti, A. S. (1993) COII / tRNALys intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (Southern Nepal) have oriental affinities American Journal of Human Genetics . 53 (3): 609-618 . |
13 | 7872649 | 1994 | Monsalve, M.V., Groot de Restrepo, H., Espinel, A., Correal, G., Devine, D.V. (1994) Evidence of mitochondrial DNA diversity in South American aboriginals Annals of Human Genetics . 58 (Pt 3): 265-273 . |
14 | 8001909 | 1994 | Lorenz, J.G., Smith, D.G. (1994) Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians Human Biology . 66 (5): 777-788 . |
15 | 8147435 | 1994 | Torroni, A., Miller, J.A., Moore, L.G., Zamudio, S., Zhuang, J., Droma, R., Wallace, D.C. (1994) Mitochondrial DNA analysis in Tibet. Implications for the origin of the Tibetan population and its adaptation to high altitude American Journal of Physical Anthropology . 93 (2): 189-199 . |
16 | 8304347 | 1994 | Torroni, A., Chen, Y., Semino, O., Santachiara-Beneceretti, A.S., Scott, C.R., Lott, M.T., Winter, M., Wallace, D.C. (1994) MtDNA and Y-chromosome polymorphisms in four native American populations from southern Mexico American Journal of Human Genetics . 54 (2): 303-318 . |
17 | 7611282 | 1995 | Chen, Y.S., Torroni, A., Excoffier, L., Santachiara-Benerecetti, A.S., Wallace, D.C. (1995) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. American Journal of Human Genetics . 57 (1): 133-149 . |
18 | 7635293 | 1995 | Kolman, C.J., Bermingham, E., Cooke, R., Ward, R.H., Arias, T.D., Guionneau-Sinclair, F. (1995) Reduced mtDNA diversity in the Ngobe Amerinds of Panama Genetics . 140 (1): 275-283 . |
19 | 7635466 | 1995 | Barrientos, A., Casademont, J., Solans, A., Moral, P., Cardellach, F., Urbano-Marquez, A., Estivill, X., Nunes, V. (1995) The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Human Genetics . 96 (-): 225-228 . |
20 | 7659016 | 1995 | Redd, A.J., Takezaki, N., Sherry, S.T., McGarvey, S.T., Sofro, A.S., Stoneking, M. (1995) Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific Molecular Biology and Evolution . 12 (4): 604-615 . |
21 | 7668267 | 1995 | Melton, T., Peterson, R., Redd, A.J., Saha, N., Sofro, A.S., Martinson, J., Stoneking, M. (1995) Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis American Journal of Human Genetics . 57 (2): 403-414 . |
22 | 7668278 | 1995 | Torroni, A., Petrozzi, M., Santolamazza, P., Sellitto, D., Cruciani, F., Scozzari, R. (1995) About the 'Asian-specific' 9-bp deletion of mtDNA.... American Journal of Human Genetics . 57 (2): 507-508 . |
23 | 7726181 | 1995 | Torroni, A., Wallace, D.C. (1995) MtDNA haplogroups in Native Americans [see also comment: Am. J. Hum. Genet. 56:1236-1238, 1995] American Journal of Human Genetics . 56 (5): 1234-1236 . |
24 | 8644719 | 1996 | Soodyall, H., Vigilant, L., Hill, A.V., Stoneking, M., Jenkins, T. (1996) mtDNA control-region sequence variation suggests multiple independent origins of an 'Asian-specific' 9-bp deletion in sub-Saharan Africans American Journal of Human Genetics . 58 (3): 595-608 . |
25 | 8751859 | 1996 | Horai, S., Murayama, K., Hayasaka, K., Matsubayashi, S., Hattori, Y., Fucharoen, G., Harihara, S., Park, K. S., Omoto, K., Pan, I. H. (1996) mtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan American Journal of Human Genetics . 59 (3): 579-590 . |
26 | 9384601 | 1998 | Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 . |
27 | 9684291 | 1998 | Thomas, M.G., Cook, C.E., Miller, K.W., Waring, M.J., Hagelberg, E. (1998) Molecular instability in the COII-tRNA(Lys) intergenic region of the human mitochondrial genome: multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences . 353 (1371): 955-965 . |
28 | 9825592 | 1998 | Dipierri, J.E., Alfaro, E., Martinez-Marignac, V.L., Bailliet, G., Bravi, C.M., Cejas, S., Bianchi, N.O. (1998) Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina Human Biology . 70 (6): 1001-1010 . |
29 | 9887373 | 1998 | Abe, S., Usami, S., Shinkawa, H., Weston, M.D., Overbeck, L.D., Hoover, D.M., Kenyon, J.B., Horai, S., Kimberling, W.J. (1998) Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation European Journal of Human Genetics . 6 (6): 563-569 . |
30 | 11236866 | 2000 | Derenko, M. V., Malyarchuk, B. A., Dambueva, I. K., Shaikhaev, G. O., Dorzhu, C. M., Nimaev, D. D., Zakharov, I. A. (2000) Mitochondrial DNA variation in two South Siberian Aboriginal populations: implications for the genetic history of North Asia Human Biology . 72 (6): 945-973 . |
31 | 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 . |
32 | 11669538 | 2001 | Umetsu, K., Tanaka, M., Yuasa, I., Saitou, N., Takeyasu, I., Fuku, N., Naito, E., Ago, K., Nakayashiki, N., Miyoshi, A., Kashimura, S., Watanabe, G., Osawa, M. (2001) Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations Electrophoresis . 22 (16): 3533-3538 . |
33 | 16120283 | 2001 | Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 . |
34 | 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 . |
35 | 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 . |
36 | 15120634 | 2004 | Ruppert, V., Nolte, D., Aschenbrenner, T., Pankuweit, S., Funck, R., Maisch, B. (2004) Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome Biochemical and Biophysical Research Communications . 318 (2): 535-543 . |
37 | NA | 2005 | De Benedictis, G., Passarino, G. (2005) Mitochondrial DNA polymorphisms Encyclopedia of Life Sciences . Online publication (http://doi.org/10.1038/npg.els.0006163): 40570 . |
38 | 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 . |
39 | 15707996 | 2005 | Qu, J., Li, R., Tong, Y., Hu, Y., Zhou, X., Qian, Y., Lu, F., Guan, M. X. (2005) Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation Biochemical and Biophysical Research Communications . 328 (4): 1139-1145 . |
40 | 15708009 | 2005 | Young, W. Y., Zhao, L., Qian, Y., Wang, Q., Li, N., Greinwald, J. H., Jr., Guan, M. X. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation Biochemical and Biophysical Research Communications . 328 (4): 1244-1251 . |
41 | 15772853 | 2005 | Thangaraj, K., Sridhar, V., Kivisild, T., Reddy, A. G., Chaubey, G., Singh, V. K., Kaur, S., Agarawal, P., Rai, A., Gupta, J., Mallick, C. B., Kumar, N., Velavan, T. P., Suganthan, R., Udaykumar, D., Kumar, R., Mishra, R., Khan, A., Annapurna, C., Singh, L. (2005) Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations Human Genetics . 116 (6): 507-517 . |
42 | 16624503 | 2006 | Li, R., Qu, J., Zhou, X., Tong, Y., Hu, Y., Qian, Y., Lu, F., Mo, J. Q., West, C. E., Guan, M. X. (2006) The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family Gene . 376 (1): 79-86 . |
43 | 17160892 | 2007 | Hill, C., Soares, P., Mormina, M., Macaulay, V., Clarke, D., Blumbach, P. B., Vizuete-Forster, M., Forster, P., Bulbeck, D., Oppenheimer, S., Richards, M. (2007) A mitochondrial stratigraphy for island southeast Asia American Journal of Human Genetics . 80 (1): 29-43 . |
44 | 17620140 | 2007 | Gonzalez, A. M., Larruga, J. M., Abu-Amero, K. K., Shi, Y., Pestano, J., Cabrera, V. M. (2007) Mitochondrial lineage M1 traces an early human backflow to Africa BMC Genomics . 8 (-): 223 . |
45 | 18223312 | 2008 | Thangaraj, K., Chaubey, G., Kivisild, T., Selvi Rani, D., Singh, V. K., Ismail, T., Carvalho-Silva, D., Metspalu, M., Bhaskar, L. V., Reddy, A. G., Chandra, S., Pande, V., Prathap Naidu, B., Adarsh, N., Verma, A., Jyothi, I. A., Mallick, C. B., Shrivastava, N., Devasena, R., Kumari, B., Singh, A. K., Dwivedi, S. K., Singh, S., Rao, G., Gupta, P., Sonvane, V., Kumari, K., Basha, A., Bhargavi, K. R., Lalremruata, A., Gupta, A. K., Kaur, G., Reddy, K. K., Rao, A. P., Villems, R., Tyler-Smith, C., Singh, L. (2008) Maternal footprints of Southeast Asians in North India Human Heredity . 66 (1): 1-9 . |
46 | 18307577 | 2008 | Ricaut, F. X., Thomas, T., Arganini, C., Staughton, J., Leavesley, M., Bellatti, M., Foley, R., Mirazon Lahr, M. (2008) Mitochondrial DNA variation in Karkar Islanders Annals of Human Genetics . 72 (Pt 3): 349-367 . |
47 | 18820594 | 2008 | Wang, X., Lu, J., Zhu, Y., Yang, A., Yang, L., Li, R., Chen, B., Qian, Y., Tang, X., Wang, J., Zhang, X., Guan, M. X. (2008) Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families Pharmacogenetics and Genomics . 18 (12): 1059-1070 . |
48 | 22283196 | 2012 | Jin, Y., Yu, Q., Zhou, D., Chen, L., Huang, X., Xu, G., Huang, J., Gao, X., Gao, Y., Shen, L. (2012) The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population Genetic Testing and Molecular Biomarkers . 16 (5): 330-334 . |