Index | PMID | Date | Reference |
---|---|---|---|
1 | 10905659 | 2000 | Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 . |
2 | 10978361 | 2000 | Hutchin, T. P., Parker, M. J., Young, I. D., Davis, A. C., Pulleyn, L. J., Deeble, J., Lench, N. J., Markham, A. F., Mueller, R. F. (2000) A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment Journal of Medical Genetics . 37 (9): 692-694 . |
3 | 11215518 | 2000 | Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937 |
4 | 12471220 | 2002 | del Castillo, F. J., Villamar, M., Moreno-Pelayo, M. A., Almela, J. J., Morera, C., Adiego, I., Moreno, F., del Castillo, I. (2002) Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene Journal of Medical Genetics . 39 (12): e82 . |
5 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
6 | 15292920 | 2005 | Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 . |
7 | 16361254 | 2006 | Yan, H., Zareen, N., Levinger, L. (2006) Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure Journal of Biological Chemistry . 281 (7): 3926-3935 . |
8 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
9 | 18252214 | 2008 | Rajasimha, H. K., Chinnery, P. F., Samuels, D. C. (2008) Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood American Journal of Human Genetics . 82 (2): 333-343 . |
10 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
11 | 22781547 | 2012 | Yarham, J. W., McFarland, R., Taylor, R. W., Elson, J. L. (2012) A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion . 12 (5): 533-538 . |
12 | 23430555 | 2013 | Komlosi, K., Maasz, A., Kisfali, P., Hadzsiev, K., Bene, J., Melegh, B. I., Melegh, B., Ablonczy, M., Nemeth, K., Fekete, G. (2013) Non-syndromic hearing impairment in a Hungarian family with the m.7510T>C mutation of mitochondrial tRNA(Ser(UCN)) and review of published cases JIMD Reports . 9 (): 105-111; erratum in JIMD Rep (2013) 9:E1 . |
13 | 29299381 | 2017 | Kytovuori, L., Gardberg, M., Majamaa, K., Martikainen, M. H. (2017) The m.7510T>C mutation: hearing impairment and a complex neurologic phenotype Brain and Behavior . 7 (12): e00859 . |
14 | 32970680 | 2020 | Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 . |