14681830,16380089,17085680,21205314,29876232,22992668[uid] - Search Results

Year	Number of Results
2003	1
2004	1
2005	1
2006	2
2011	1
2012	1
2017	1
2024	0

1

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Zhao H, et al. Am J Hum Genet. 2004 Jan;74(1):139-52. doi: 10.1086/381133. Epub 2003 Dec 12. Am J Hum Genet. 2004. PMID: 14681830 Free PMC article.

2

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.

Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, Yuan H, Li R, Zhai S, Young WY, Guan MX. Wang Q, et al. Biochem Biophys Res Commun. 2006 Feb 10;340(2):583-8. doi: 10.1016/j.bbrc.2005.12.045. Epub 2005 Dec 19. Biochem Biophys Res Commun. 2006. PMID: 16380089

3

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. J Med Genet. 2006 Nov;43(11):e54. doi: 10.1136/jmg.2006.042440. J Med Genet. 2006. PMID: 17085680 Free PMC article.

4

Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.

Shen Z, Zheng J, Chen B, Peng G, Zhang T, Gong S, Zhu Y, Zhang C, Li R, Yang L, Zhou J, Cai T, Jin L, Lu J, Guan MX. Shen Z, et al. J Transl Med. 2011 Jan 4;9:4. doi: 10.1186/1479-5876-9-4. J Transl Med. 2011. PMID: 21205314 Free PMC article.

5

The Mitochondrial COI/tRNA^SER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.

Y D, B-H X, Y-S T, G-C Z, J-H L. Y D, et al. Balkan J Med Genet. 2017 Dec 29;20(2):43-50. doi: 10.1515/bjmg-2017-0025. eCollection 2017 Dec. Balkan J Med Genet. 2017. PMID: 29876232 Free PMC article.

6

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE. Whirl-Carrillo M, et al. Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Clin Pharmacol Ther. 2012. PMID: 22992668 Free PMC article. Review.

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