Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 145

1.

[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
2.

[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
3.

Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ.

Audiol Neurootol. 2010;15(1):57-66. doi: 10.1159/000231567. Epub 2009 Aug 1.

PMID:
19648736
4.

The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.

Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J.

Arch Otolaryngol Head Neck Surg. 2007 Feb;133(2):162-8. Erratum in: Arch Otolaryngol Head Neck Surg. 2007 Jun;133(6):607.

PMID:
17309986
5.

[Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening].

Dai P, Zhu XH, Yuan YY, Zhu QW, Teng GC, Zhang X, Liu LX, Wang JL, Feng B, Zhai SQ, Kang DY, Liu X, Huang DL.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2006 Jul;41(7):497-500. Chinese.

PMID:
17007371
6.

[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China].

Yuan YY, Dai P, Zhu QW, Kang DY, Huang DL.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2009 Jun;44(6):449-54. Chinese.

PMID:
19954013
7.

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.

J Hum Genet. 2007;52(6):492-7. Epub 2007 Apr 19.

PMID:
17443271
8.

[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].

Chen DY, Chen XW, Jin X, Zuo J, Wei CG, Cao KL, Fang FD.

Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2820-4. Chinese.

PMID:
18167283
9.

[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
10.

Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.

Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H.

J Hum Genet. 2006;51(9):805-10. Epub 2006 Aug 19.

PMID:
16924389
11.

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
12.

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

Song MH, Shin JW, Park HJ, Lee KA, Kim Y, Kim UK, Jeon JH, Choi JY.

Laryngoscope. 2014 May;124(5):E194-202. doi: 10.1002/lary.24504. Epub 2013 Dec 13.

PMID:
24338212
13.

[Analysis the relationship between SLC26A4 mutation and current diagnosis of inner ear malformation in children with sensorineural hearing loss].

Sun B, Zhou C, Dai Z.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Nov;28(22):1741-4. Chinese.

PMID:
25752102
14.

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.

15.

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.

17.

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.

Maciaszczyk K, LewiƄski A.

Neuro Endocrinol Lett. 2008 Feb;29(1):29-36. Review.

PMID:
18283249
18.

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

Pang X, Chai Y, Chen P, He L, Wang X, Wu H, Yang T.

Int J Pediatr Otorhinolaryngol. 2015 Aug;79(8):1351-3. doi: 10.1016/j.ijporl.2015.06.009. Epub 2015 Jun 11.

PMID:
26100058
19.

Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation.

Wu CC, Lin SY, Su YN, Fang MY, Chen SU, Hsu CJ.

Audiol Neurootol. 2010;15(5):311-7. doi: 10.1159/000284349. Epub 2010 Feb 17.

PMID:
20160438
20.

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

Supplemental Content

Support Center