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Items: 1 to 20 of 213

1.

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.

2.

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.

3.

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

Ladsous M, Vlaeminck-Guillem V, Dumur V, Vincent C, Dubrulle F, Dhaenens CM, Wémeau JL.

Thyroid. 2014 Apr;24(4):639-48. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.

PMID:
24224479
4.

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ.

Am J Hum Genet. 2007 Jun;80(6):1055-63. Epub 2007 Apr 23. Erratum in: Am J Hum Genet. 2007 Sep;81(3):634.

5.

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.

6.

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
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.

Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.

Aimoni C, Ciorba A, Cerritelli L, Ceruti S, Skarżyński PH, Hatzopoulos S.

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:254-258. doi: 10.1016/j.ijporl.2017.07.042. Epub 2017 Jul 29.

PMID:
28780189
9.

Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome.

Ito T, Nishio A, Wangemann P, Griffith AJ.

Neuroscience. 2015 Dec 3;310:188-97. doi: 10.1016/j.neuroscience.2015.09.016. Epub 2015 Sep 9.

10.

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.

11.
12.

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
13.

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
14.

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
15.

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

Mercer S, Mutton P, Dahl HH.

Genet Test Mol Biomarkers. 2011 May;15(5):365-8. doi: 10.1089/gtmb.2010.0177. Epub 2011 Mar 2.

PMID:
21366435
16.

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
17.

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.

18.

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.

19.

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
20.

Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.

Jang JH, Jung J, Kim AR, Cho YM, Kim MY, Lee SY, Choi JY, Lee JH, Choi BY.

Audiol Neurootol. 2014;19(5):319-26. doi: 10.1159/000366190. Epub 2014 Oct 24.

PMID:
25358692

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