[1]
|
Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2(Connexin 26) gene[J]. Hum Genet, 2000, 106:40-44. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=8f2f28f8158b5a78ad04d2cac9576988 |
[2]
|
Vishnuvardhan M, Hemabindu L, Pardhanandana Reddy P, et al. Perinatal risk factors for congenital sensorineural hearing loss[J]. Ind J Otol, 2006, 12:7-12. http://www.researchgate.net/publication/287898238_Perinatal_risk_factors_for_congenital_sensorineural_hearing_loss |
[3]
|
Chen G, Wang X, Fu S. Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening[J]. Int J Pediatr Otorhinolaryngol, 2011, 75:532-534. doi: 10.1016/j.ijporl.2011.01.013 |
[4]
|
韩明昱, 戴朴.我国耳聋基因诊断的临床应用进展[J].北京医学, 2011, 33:419-421. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=bjyx201105024 |
[5]
|
Kalatzis V, Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss[J]. Hum Mol Genet, 1998, 7:1589-1597. doi: 10.1093/hmg/7.10.1589 |
[6]
|
Ji YB, Han DY, Lan L, et al. Molecular epidemiological analysis of mitochondrial DNA 12S rRNA, A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China[J]. Acta Otolaryngol, 2011, 131:124-129. doi: 10.3109/00016489.2010.483479 |
[7]
|
王国建, 戴朴, 韩东一, 等.基因芯片技术在非综合征性耳聋快速基因诊断中的应用研究[J].中华耳科学杂志, 2008, 6:61-66. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zhekxzz200801015 |
[8]
|
陈东野, 陈晓巍, 田永胜, 等.人工耳蜗植入者线粒体12S rRNA基因突变的分析[J].中国医药生物技术, 2008, 3:169-172. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zgyyswjs200803004 |
[9]
|
Rötig A. Human diseases with impaired mitochondrial protein synthesis[J]. Biochim Biophys Acta, 2011, 1807:1198-1205. doi: 10.1016/j.bbabio.2011.06.010 |
[10]
|
Jacobs HT, Hutchin TP, Kappi T, et al. Mitochondrial DNA mutations in patients with postlingual, non-syndromic hearing impairment[J]. Eur J Hum Genet, 2005, 13:26-33. doi: 10.1038/sj.ejhg.5201250 |
[11]
|
Mitomap: A human mitochondrial genome database[EB/OL].[2011-12-18]. http://www.mitomap.org/MITOMAP |
[12]
|
Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotiocinduced and non-syndromic deafness[J]. Nat Get, 1993, 4:289-294. http://europepmc.org/abstract/MED/7689389 |
[13]
|
田永胜, 陈晓巍, 曹克利, 等.非综合征性耳聋人工耳蜗植入者基因分析[J].中华医学杂志, 2007, 87:1093-1096. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zhyx200716005 |
[14]
|
Young WY, Zhao L, Qian Y, et al. Variants in mitochondrial tRNA Glu, tRNA Arg and tRNA Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss[J]. Am J Med Genet A, 2006, 140:p2188-p2197. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=1d5a36ac11cc639a73b5801adaa435d1 |
[15]
|
Kokotas H, Petersen MB, Willems PJ. Mitochondrial deafness[J]. Clin Genet, 2007, 71:379-391. doi: 10.1111/j.1399-0004.2007.00800.x |
[16]
|
Mkaouar Rebai E, Tlili A, Masmoudi S, et al. Mutational analysis of the mitochondrial 12S rRNA and tRNASer (UCN) genes in Tunisian patients with nonsyndromic hearing loss[J]. Biochem Biophys Res Commun, 2006, 340:1251-1258. doi: 10.1016/j.bbrc.2005.12.123 |
[17]
|
Usami S, Abe S, Akita J, et al. Prevalence of mitochondrial gene mutations among hearing impaired patients[J]. J Med Genet, 2000, 37:38-40. doi: 10.1136/jmg.37.1.38 |
[18]
|
Zhao H, Li R, Wang Q, et al. Maternally inherited aminoglycoside-induced and non-syndromic deafness associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family[J]. Am J Hum Genet, 2004, 74:139-152. doi: 10.1086/381133 |
[19]
|
Li X, Greinwald J, Yang L, et al. Molecular analysis of mitochondrial 12S rRNA and tRNASer (UCN) genes in pediatric subjects with nonsyndromic hearing loss[J]. J Med Genet, 2004, 41:615-620. doi: 10.1136/jmg.2004.020230 |