|
1
|
Morton NE: Genetic epidemiology of hearing
impairment. Ann N Y Acad Sci. 630:16–31. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Bitner-Glindzicz M: Hereditary deafness
and phenotyping inhumans. Br Med Bull. 63:73–94. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Guo YF, Liu XW, Guan J, Han MK, Wang DY,
Zhao YL, Rao SQ and Wang QJ: GJB2, SLC26A4 and mitochondrial DNA
A1555G mutations in prelingual deafness in Northern Chinese
subjects. Acta Otolaryngol. 128:297–303. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Yuan Y, You Y, Huang D, Cui J, Wang Y,
Wang Q, Yu F, Kang D, Yuan H, Han D and Dai P: Comprehensive
molecular etiology analysis of nonsyndromic hearing impairment from
typical areas in China. J Transl Med. 7:792009. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Xin F, Yuan Y, Deng X, Han M, Wang G, Zhao
J, Gao X, Liu J, Yu F, Han D and Dai P: Genetic mutations in
nonsyndromic deafness patients of Chinese minority and Han
ethnicities in Yunnan, China. J Transl Med. 11:3122013. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Chen X, Li S, Yang Y, Yang X, Liu Y, Liu
Y, Hu W, Jin L and Wang X: Genome-wide association study validation
identifies novel loci for atherosclerotic cardiovascular disease. J
Thromb Haemost. 10:1508–1514. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Tang LL, Chen FY, Wang H, Hu XL, Dai X,
Mao J, Shen ZT, Wu YH, Wang SM, Hai J, et al: Haplotype analysis of
eight genes of the monoubiquitinated FANCD2-DNA damage-repair
pathway in breast cancer patients. Cancer Epidemiol. 37:311–317.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Yin J, Wang L, Shi Y, Shao A, Tang W, Wang
X, Ding G, Liu C, Chen S and Gu H: Interleukin 17A rs4711998 A>G
polymorphism was associated with a decreasedrisk of esophageal
cancer in a Chinese population. Dis Esophagus. 27:87–92. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Erenberg A, Lemons J, Sia C, Trunkel D and
Ziring P: Newborn and infant hearing loss: Detection and
intervention. American Academy of Pediatrics. Task Force on Newborn
and Infant Hearing, 1998–1999. Pediatrics. 103:527–530.
1999.PubMed/NCBI
|
|
10
|
Du W, Cheng J, Ding H, Jiang Z, Guo Y and
Yuan H: A rapid method for simultaneous multi-gene mutation
screening in children with nonsyndromic hearing loss. Genomics.
104:264–270. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Wilcox SA, Saunders K, Osborn AH, Arnold
A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, Gardner RJ
McKinlay, Kamarinos M, et al: High frequency hearing loss
correlated with mutations in the GJB2 gene. Hum Genet. 106:399–405.
2000. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Estivill X, Fortina P, Surrey S, Rabionet
R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N,
Milà M, et al: Connexin-26 mutations in sporadic and inherited
sensorineural deafness. Lancet. 351:394–398. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Dai P, Yu F, Han B, Liu X, Wang G, Li Q,
Yuan Y, Liu X, Huang D, Kang D, et al: GJB2 mutation spectrum in
2,063 Chinese patients with nonsyndromic hearing impairment. J
Transl Med. 7:262009. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Kenneson A, Van Naarden Braun K and Boyle
C: GJB2 (connexin 26) variants and nonsyndromic sensorineural
hearing loss: A HuGE review. Genet Med. 4:258–274. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G,
Liu X, He J, Huang D, Kang D, et al: The prevalence of the 235delC
GJB2 mutation in a Chinese deaf population. Genet Med. 9:283–289.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X,
Huang Z, Li Y, Xiang M, Yang J, et al: The p.V37I exclusive
genotype of GJB2: A genetic risk indicator of postnatal permanent
childhood hearing impairment. PLoS One. 7:e366212012. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Gallant E, Francey L, Tsai EA, Berman M,
Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, et al:
Homozygosity for the V37I GJB2 mutation in fifteen probands with
Mild to Moderate sensorineural hearing impairment: Further
confirmation of pathogenicity and haplotype analysis inAsian
populations. Am J Med Genet. 161A:1–2157. 2013.PubMed/NCBI
|
|
18
|
Yuan Y, Guo W, Tang J, Zhang G, Wang G,
Han M, Zhang X, Yang S, He DZ and Dai P: Molecular epidemiology and
functional assessment of novel allelic variants of SLC26A4 in
nonsyndromic hearing loss patients with enlarged vestibular
aqueduct in China. PLoS One. 7:e499842012. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Campbell C, Cucci RA, Prasad S, Green GE,
Edeal JB, Galer CE, Karniski LP, Sheffield VC and Smith RJ: Pendred
syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel
mutations and possible genotype-phenotype correlations. Hum Mutat.
17:403–411. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Tsukamoto K, Suzuki H, Harada D, Namba A,
Abe S and Usami S: Distribution and frequencies of PDS (SLC26A4)
mutations in Pendred syndrome and nonsyndromic hearing loss
associated with enlarged vestibular aqueduct: A unique spectrum of
mutations in Japanese. Eur J Hum Genet. 11:916–922. 2003.
View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz
S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, et al: Origins and
frequencies of SLC26A4 (PDS) mutations in east and south Asians:
Global implications for the epidemiology of deafness. J Med Genet.
40:242–248. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H,
Zong L, Guan J, Xu BC, Wang DY, Han MK, et al: A distinct spectrum
of SLC26A4 mutations in patients with enlarged vestibular aqueduct
in China. Clin Genet. 72:245–254. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Dai P, Li Q, Huang D, Yuan Y, Kang D,
Miller DT, Shao H, Zhu Q, He J, Yu F, et al: SLC26A4 c.919-2A>G
varies among Chinese ethnic groups as a cause of hearing loss.
Genet Med. 10:586–592. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Jacobs HT, Hutchin TP, Käppi T, Gillies G,
Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda
S, et al: Mitochondrial DNA mutations in patients with postlingual,
nonsyndromic hearing impairment. Eur J Hum Genet. 13:26–33. 2005.
View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X
and Guan MX: Cosegregation of C-insertion at position 961 with
A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese
family with maternally inherited hearing loss. Am J Med Genet A.
124A:1–117. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Zhao H, Young WY, Yan Q, Li R, Cao J, Wang
Q, Li X, Peters JL, Han D and Guan MX: Functional characterization
of the mitochondrial 12S rRNA C1494T mutation associated with
aminoglycoside-induced and non-syndromic hearing loss. Nucleic
Acids Res. 33:1132–1139. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Yuan HJ, Chen J, Liu X, Cheng J, Wang X,
Yang L, Yang S, Cao J, Kang D, Dai P, et al: Coexistence of
mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A
mutations in two Han Chinese pedigrees with aminoglycoside-induced
and non-syndromic hearing loss. Biochem Biophys Res Commun.
362:94–100. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Prezant TR, Agapian JV, Bohlman MC, Bu X,
Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et
al: Mitochondrial ribosomal RNA mutation associated with both
antibiotic-induced and non-syndromic deafness. Nat Genet.
4:289–294. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Li Q, Yuan YY, Huang DL, Han DY and Dai P:
Rapid screening for the mitochondrial DNA C1-494T mutation in a
deaf population in China using real-time quantitative PCR. Acta
Otolaryngol. 132:814–818. 2012.PubMed/NCBI
|
|
30
|
Li R, Greinwald JH Jr, Yang L, Choo DI,
Wenstrup RJ and Guan MX: Molecular analysis of the mitochondrial
12S rRNA and tRNASer(UCN) genes in paediatric subjects with
non-syndromic hearing loss. J Med Genet. 41:615–620. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Guo YF, Liu XW, Xu BC, Zhu YM, Wang YL,
Zhao FF, Wang DY, Zhao YL, Ji YB and Wang QJ: Analysis of a
large-scale screening of mitochondrial DNA m.1555A>G mutation in
2417 deaf-mute students in northwest of China. Genet Test Mol
Biomarkers. 14:527–531. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Yao YG, Kong QP, Wang CY, Zhu CL and Zhang
YP: Different matrilineal contributions to genetic structure of
ethnic groupsin the silk road region in China. Mol Biol Evol.
21:2265–2280. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han
D, Bai Y, Young WY and Guan MX: Maternally inherited
aminoglycoside-induced and nonsyndromic deafnessis associated with
the novel C1494T mutation in the mitochondrial12S rRNA gene in a
large Chinese family. Am J Hum Genet. 74:139–152. 2004. View Article : Google Scholar : PubMed/NCBI
|
