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Items: 1 to 20 of 121

1.

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

King KA, Choi BY, Zalewski C, Madeo AC, Manichaikul A, Pryor SP, Ferruggiaro A, Eisenman D, Kim HJ, Niparko J, Thomsen J, Butman JA, Griffith AJ, Brewer CC.

Laryngoscope. 2010 Feb;120(2):384-9. doi: 10.1002/lary.20722.

2.

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

Okamoto Y, Mutai H, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Morimoto N, Sakamoto H, Ogahara N, Takagi A, Taiji H, Kaga K, Ogawa K, Matsunaga T.

Laryngoscope. 2014 Apr;124(4):E134-40. doi: 10.1002/lary.24368. Epub 2013 Dec 17.

PMID:
24105851
3.

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
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.

Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.

Rah YC, Kim AR, Koo JW, Lee JH, Oh SH, Choi BY.

Laryngoscope. 2015 Jun;125(6):E216-22. doi: 10.1002/lary.25079. Epub 2014 Dec 8.

PMID:
25488846
6.

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ.

JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185. Erratum in: JAMA Otolaryngol Head Neck Surg. 2014 Dec;140(12):1212.

PMID:
24051746
7.

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ.

Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884.

8.

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.

9.

Significance of unilateral enlarged vestibular aqueduct.

Greinwald J, DeAlarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J.

Laryngoscope. 2013 Jun;123(6):1537-46. doi: 10.1002/lary.23889. Epub 2013 Feb 9.

PMID:
23401162
10.

Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

Rose J, Muskett JA, King KA, Zalewski CK, Chattaraj P, Butman JA, Kenna MA, Chien WW, Brewer CC, Griffith AJ.

Laryngoscope. 2017 Jul;127(7):E238-E243. doi: 10.1002/lary.26418. Epub 2016 Nov 15.

PMID:
27859305
11.

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.

Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ.

Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18. Review.

12.

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
13.

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.

14.

Genotype-phenotype correlations for SLC26A4-related deafness.

Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ.

Hum Genet. 2007 Dec;122(5):451-7. Epub 2007 Aug 10.

PMID:
17690912
15.

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct.

Wang M, Zhang F, Xu L, Xiao Y, Li J, Fan Z, Sun Q, Bai X, Wang H.

Int J Pediatr Otorhinolaryngol. 2016 Nov;90:170-174. doi: 10.1016/j.ijporl.2016.09.018. Epub 2016 Sep 17.

PMID:
27729126
16.

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Miyagawa M, Nishio SY, Usami S; Deafness Gene Study Consortium.

J Hum Genet. 2014 May;59(5):262-8. doi: 10.1038/jhg.2014.12. Epub 2014 Mar 6.

17.

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.

18.

SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.

Yamazaki H, Naito Y, Moroto S, Tamaya R, Yamazaki T, Fujiwara K, Ito J.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2322-6. doi: 10.1016/j.ijporl.2014.10.038. Epub 2014 Nov 5.

PMID:
25468468
19.

Delineating the hearing loss in children with enlarged vestibular aqueduct.

Zhou G, Gopen Q, Kenna MA.

Laryngoscope. 2008 Nov;118(11):2062-6. doi: 10.1097/MLG.0b013e31818208ad.

PMID:
18665003
20.

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.

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