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Results: 1 to 20 of 113

1.

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
[PubMed - in process]
2.

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.

Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino E.

J Endocrinol Invest. 2004 May;27(5):430-5.

PMID:
15279074
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
22116369
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
5.

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
6.

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
7.

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F Jr, Figueiredo LG, Neves FA, Casulari LA.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303.

PMID:
19169484
[PubMed - indexed for MEDLINE]
Free Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
16570074
[PubMed - indexed for MEDLINE]
Free Article
10.

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Pourová R, Janousek P, Jurovcík M, Dvoráková M, Malíková M, Rasková D, Bendová O, Leonardi E, Murgia A, Kabelka Z, Astl J, Seeman P.

Ann Hum Genet. 2010 Jul;74(4):299-307. doi: 10.1111/j.1469-1809.2010.00581.x.

PMID:
20597900
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
17503324
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
13.

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.

PMID:
19204907
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Novel mutations in the SLC26A4 gene.

Busi M, Castiglione A, Taddei Masieri M, Ravani A, Guaran V, Astolfi L, Trevisi P, Ferlini A, Martini A.

Int J Pediatr Otorhinolaryngol. 2012 Sep;76(9):1249-54. doi: 10.1016/j.ijporl.2012.05.014. Epub 2012 Jun 18.

PMID:
22717225
[PubMed - indexed for MEDLINE]
16.

Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.

Lai CC, Chiu CY, Shiao AS, Tso YC, Wu YC, Tu TY, Jap TS.

Metabolism. 2007 Sep;56(9):1279-84.

PMID:
17697873
[PubMed - indexed for MEDLINE]
17.

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.

Sagong B, Seok JH, Kwon TJ, Kim UK, Lee SH, Lee KY.

Gene. 2012 Oct 15;508(1):135-9. doi: 10.1016/j.gene.2012.07.033. Epub 2012 Aug 4.

PMID:
22884721
[PubMed - indexed for MEDLINE]
18.

Hereditary hearing loss with thyroid abnormalities.

Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC, Butman JA, Brewer CC, Stewart AK, Alper SL, Griffith AJ.

Adv Otorhinolaryngol. 2011;70:43-9. doi: 10.1159/000322469. Epub 2011 Feb 24. Review.

PMID:
21358184
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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