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Items: 1 to 20 of 152

1.

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.

2.

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
3.

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
4.

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
5.

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
6.

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
7.

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.

8.

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.

9.

[Current status and perspectives of the research in Pendred syndrome].

Matsunaga T, Fujioka M, Hosoya M.

Nihon Rinsho. 2013 Dec;71(12):2215-22. Review. Japanese.

PMID:
24437281
10.

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.

11.

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
12.

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.

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.

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
15.

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
16.

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.

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.

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.

Liu Y, Wang L, Feng Y, He C, Liu D, Cai X, Jiang L, Chen H, Liu C, Wu H, Mei L.

PLoS One. 2016 Dec 20;11(12):e0168508. doi: 10.1371/journal.pone.0168508. eCollection 2016.

19.

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S, Nofziger C, Tamma G, Bernardinelli E, Vanoni S, Nowak C, Grabmayer E, Kössler S, Stephan S, Patsch W, Paulmichl M.

Cell Physiol Biochem. 2011;28(3):451-66. doi: 10.1159/000335107. Epub 2011 Nov 18. Review.

20.

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

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