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Items: 1 to 20 of 280

1.

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

Chen K, Wang X, Sun L, Jiang H.

Otolaryngol Head Neck Surg. 2012 Jun;146(6):972-8. doi: 10.1177/0194599812439670. Epub 2012 Mar 12.

PMID:
22412181
2.

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.

BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85.

3.

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.

4.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1049-53. doi: 10.1016/j.ijporl.2010.06.002.

PMID:
20621367
5.

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.

6.

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

Cirello V, Bazzini C, Vezzoli V, Muzza M, Rodighiero S, Castorina P, Maffini A, Bottà G, Persani L, Beck-Peccoz P, Meyer G, Fugazzola L.

Mol Cell Endocrinol. 2012 Apr 4;351(2):342-50. doi: 10.1016/j.mce.2012.01.013. Epub 2012 Jan 25.

PMID:
22285650
7.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F.

Eur J Hum Genet. 2006 Jun;14(6):773-9.

8.

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

Chai Y, Huang Z, Tao Z, Li X, Li L, Li Y, Wu H, Yang T.

Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.

PMID:
23918157
9.

Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.

Ji YB, Han DY, Lan L, Wang DY, Zong L, Zhao FF, Liu Q, Benedict-Alderfer C, Zheng QY, Wang QJ.

Acta Otolaryngol. 2011 Feb;131(2):124-9. doi: 10.3109/00016489.2010.483479. Epub 2010 Dec 16.

10.

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

Jiang H, Chen J, Shan XJ, Li Y, He JG, Yang BB.

Mol Med Rep. 2014 Jul;10(1):379-86. doi: 10.3892/mmr.2014.2148. Epub 2014 Apr 15.

PMID:
24737404
11.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y, You Y, Huang D, Cui J, Wang Y, Wang Q, Yu F, Kang D, Yuan H, Han D, Dai P.

J Transl Med. 2009 Sep 10;7:79. doi: 10.1186/1479-5876-7-79.

12.

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
13.

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P.

PLoS One. 2014 Nov 5;9(11):e108134. doi: 10.1371/journal.pone.0108134. eCollection 2014.

14.

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
15.

[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
16.

Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.

Hochman JB, Stockley TL, Shipp D, Lin VY, Chen JM, Nedzelski JM.

Otol Neurotol. 2010 Aug;31(6):919-22. doi: 10.1097/MAO.0b013e3181e3d324.

PMID:
20601923
17.

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

Xin F, Yuan Y, Deng X, Han M, Wang G, Zhao J, Gao X, Liu J, Yu F, Han D, Dai P.

J Transl Med. 2013 Dec 17;11:312. doi: 10.1186/1479-5876-11-312.

18.

Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Qing J, Zhou Y, Lai R, Hu P, Ding Y, Wu W, Xiao Z, Ho PT, Liu Y, Liu J, Du L, Yan D, Goldstein BJ, Liu X, Xie D.

Genet Test Mol Biomarkers. 2015 Jan;19(1):52-8. doi: 10.1089/gtmb.2014.0241.

19.

[Investigation of SLC26A4 mutations associated with inner ear malformations].

Zhu Q, Zang W, Yuan Y, Han H, Zhang X, Jiang X, Ren X, Feng C, Lu H.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Jan;26(1):22-6. Chinese.

PMID:
22509691
20.

[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
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