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Results: 1 to 20 of 114

1.

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

Li Q, Zhu QW, Yuan YY, Huang SS, Han DY, Huang DL, Dai P.

J Transl Med. 2012 Nov 14;10:225. doi: 10.1186/1479-5876-10-225.

PMID:
23151025
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

Hu X, Liang F, Zhao M, Gong A, Berry ER, Shi Y, Wang Y, Chen Y, Liu A, Qu C.

Int J Pediatr Otorhinolaryngol. 2012 Oct;76(10):1474-80. doi: 10.1016/j.ijporl.2012.06.027. Epub 2012 Jul 15.

PMID:
22796198
[PubMed - indexed for MEDLINE]
3.

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL.

Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. Erratum in: Physiol Genomics. 2010 Feb;40(3):216.

PMID:
19509082
[PubMed - indexed for MEDLINE]
Free Article
4.

Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome.

Chen K, Zhou W, Zong L, Liu M, Du J, Jiang H.

Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1633-6. doi: 10.1016/j.ijporl.2012.07.035. Epub 2012 Aug 18.

PMID:
22906308
[PubMed - indexed for MEDLINE]
5.

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.

Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL.

Genet Med. 2008 Aug;10(8):586-92. doi: 10.1097GIM.0b013e31817d2ef1.

PMID:
18641518
[PubMed - indexed for MEDLINE]
6.

[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].

Jiang L, Feng Y, Chen H, He C, Mei L.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Jul;24(13):587-91. Chinese.

PMID:
20842945
[PubMed - indexed for MEDLINE]
7.

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

de Moraes VC, dos Santos NZ, Ramos PZ, Svidnicki MC, Castilho AM, Sartorato EL.

Int J Pediatr Otorhinolaryngol. 2013 Mar;77(3):410-3. doi: 10.1016/j.ijporl.2012.11.042. Epub 2012 Dec 27.

PMID:
23273637
[PubMed - indexed for MEDLINE]
8.

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

Yao G, Li S, Chen D, Wang H, Zhang J, Feng Z, Guo L, Yang Z, Yang S, Sun C, Zhang X, Ma D.

Int J Pediatr Otorhinolaryngol. 2013 Apr;77(4):544-9. doi: 10.1016/j.ijporl.2013.01.002. Epub 2013 Feb 4.

PMID:
23385134
[PubMed - indexed for MEDLINE]
9.

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M.

BMC Med Genet. 2013 May 24;14:56. doi: 10.1186/1471-2350-14-56.

PMID:
23705809
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

[Analysis of the hereditary etiology of 336 patients with non-syndromic sensorineural hearing loss from Ningxia Hui Autonomous Region of China].

Wang YL, Zhu YM, Liu XW, Xu BC, Guo YF, Wang QJ.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Sep;47(9):760-3. Chinese.

PMID:
23141447
[PubMed - indexed for MEDLINE]
11.

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ.

J Transl Med. 2008 Nov 30;6:74. doi: 10.1186/1479-5876-6-74.

PMID:
19040761
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

[Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography].

Zhao J, Wu LQ, Feng Y, Pan Q, Zhao K, Li HY, Liang DS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):21-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.005. Chinese.

PMID:
19199245
[PubMed - indexed for MEDLINE]
13.

[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China].

Dai P, Yuan YY, Kang DY, Li Q, Zhu QW, Zhang X, Liu LX, Liu X, Huang DL.

Zhonghua Yi Xue Za Zhi. 2007 Sep 25;87(36):2521-5. Chinese.

PMID:
18067822
[PubMed - indexed for MEDLINE]
14.

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P.

PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.

PMID:
23185506
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].

Li Q, Fang R, You Y, Wang Y, Dai P.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Oct;24(19):876-9. Chinese.

PMID:
21174747
[PubMed - indexed for MEDLINE]
16.

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.

J Clin Endocrinol Metab. 2006 Jul;91(7):2678-81. Epub 2006 May 9.

PMID:
16684826
[PubMed - indexed for MEDLINE]
17.

A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations.

Du W, Guo Y, Wang C, Wang Y, Liu X.

Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1670-6. doi: 10.1016/j.ijporl.2013.07.023. Epub 2013 Aug 17. Review.

PMID:
23958391
[PubMed - indexed for MEDLINE]
18.

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

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

J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.

PMID:
21961810
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

Lee H, Jung J, Shin J, Song M, Kim S, Lee JH, Lee KA, Shin S, Kim UK, Bok J, Lee KY, Choi J, Park H.

Clin Genet. 2013 Sep 5. doi: 10.1111/cge.12273. [Epub ahead of print]

PMID:
24007330
[PubMed - as supplied by publisher]
20.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ.

Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.

PMID:
19426954
[PubMed - indexed for MEDLINE]
Free PMC Article

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