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Items: 1 to 20 of 107

1.

[PCR-GeneScan technique for detection of the GJB2 235 delC and mtDNA A1555G mutations for hereditary hearing loss].

Li Q, Fang R, Wang G, Dai P.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Jul;26(13):585-8. Chinese.

PMID:
23002641
2.

[Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].

Li YH, Jiang H, Yang LJ, Xu HX, Li H, Li HW, Luo YH, Wang CW, Zou GH.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Aug;45(8):645-51. Chinese.

PMID:
21055240
3.

[Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].

Wang W, Cheng HB, Yang N, Shi YC, Liu JZ, Li Q, Yang SM, Shen LY, Liu MJ, Chen Y, Li H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):388-92. doi: 10.3760/cma.j.issn.1003-9406.2012.04.003. Chinese.

PMID:
22875492
4.
5.

GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.

Chen G, He F, Fu S, Dong J.

Int J Pediatr Otorhinolaryngol. 2011 Sep;75(9):1156-9. doi: 10.1016/j.ijporl.2011.06.011.

PMID:
21777984
6.

Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.

Han B, Zong L, Li Q, Zhang Z, Wang D, Lan L, Zhang J, Zhao Y, Wang Q.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1440-5. doi: 10.1016/j.ijporl.2013.05.040.

PMID:
23815884
7.

Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening.

Dent KM, Kenneson A, Palumbos JC, Maxwell S, Eichwald J, White K, Mao R, Bale JF Jr, Carey JC.

Am J Med Genet C Semin Med Genet. 2004 Feb 15;125C(1):28-34.

PMID:
14755431
8.

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE.

Am J Med Genet A. 2007 Apr 15;143A(8):830-8.

PMID:
17357124
9.

[Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].

Wang G, Yuan Y, Li R, Han M, Huang S, Kang D, Zhang X, Dong M, Dai P, Han D.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 May;25(10):445-8. Chinese.

PMID:
21809555
10.

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T, Ramsay M, Penn C, Liu XZ.

Int J Pediatr Otorhinolaryngol. 2011 May;75(5):611-7. doi: 10.1016/j.ijporl.2011.01.029.

11.

[Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang].

Li Y, Guan H, Xu H, Li H, Li H, Wei Y, Ya S, Gong J.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Jul;24(13):604-7, 612. Chinese.

PMID:
20842950
12.

[Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city].

Yuan Y, Huang D, Dai P, Zhu X, Yu F, Zhang X, Liu L, Han D.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008 Jan;22(1):14-7, 21. Chinese.

PMID:
18338563
13.

[GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation].

Li Q, Fang RP, Zhou HG, Dai P, Tian L, Lin D, Huang Q, Song JM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):194-7. doi: 10.3760/cma.j.issn.1003-9406.2010.02.017. Chinese.

PMID:
20376804
14.

[Genetic counseling and intervention for families with deaf-mute patients based on genetic testing: analysis of 5 families].

Dai P, Han B, Yuan YY, Jin ZC, Wang Y, Xiang Y, Yu F, Liu X, Wang GJ, Kang DY, Zhang X, Li M, Zhai SQ, Huang DL, Han DY.

Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1088-92. Chinese.

PMID:
17672986
15.

[A novel technique for simultaneous multi-gene mutation screening in 225 patients with nonsyndromic hearing loss].

Zhang D, Duan H, Lin P, Cheng J, Wang C, Ma Y, Cheng Y, Zhao H, Wang W, Xu K, Han D, Yuan H.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Mar;51(3):203-8. doi: 10.3760/cma.j.issn.1673-0860.2016.03.009. Chinese.

PMID:
27033575
16.

[Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment].

Zhang CQ, Chen BB, Chen YY, Liu XJ, Zheng J, Gao JJ, Huang SY, Nan BY, Zhang YY, Yu X, Guan MX.

Yi Chuan. 2013 Mar;35(3):352-8. Chinese.

PMID:
23575541
17.

Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.

Kim SY, Lee BY, Lim JH, Ryu HM, Yang JH, Chung JH, Han HW, Park SY.

Int J Audiol. 2011 Oct;50(10):694-8. doi: 10.3109/14992027.2011.563247.

PMID:
21815880
18.

[Mutations analysis in a pedigree with maternally inherited sensorineural hearing loss].

Xu C, Zhang H, Zhang Y, Zhao S, Geng X, Shan Y, Shan X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Apr;22(2):125-8. Chinese.

PMID:
15793769
19.

Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China.

Zhang J, Wang P, Han B, Ding Y, Pan L, Zou J, Liu H, Pang X, Liu E, Wang H, Liu H, Zhang X, Cheng X, Feng D, Li Q, Wang D, Zong L, Yi Y, Tian N, Mu F, Tian G, Chen Y, Liu G, Zhang F, Yi X, Yang L, Wang Q.

Int J Pediatr Otorhinolaryngol. 2013 Dec;77(12):1929-35. doi: 10.1016/j.ijporl.2013.08.038.

PMID:
24100002
20.

Molecular diagnosis of hearing loss.

Brown KK, Rehm HL.

Curr Protoc Hum Genet. 2012 Jan;Chapter 9:Unit 9.16. doi: 10.1002/0471142905.hg0916s72.

PMID:
22241658
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