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Items: 1 to 20 of 221

1.

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

de Moraes VC, dos Santos NZ, Ramos PZ, Svidnicki MC, Castilho AM, Sartorato EL.

Int J Pediatr Otorhinolaryngol. 2013 Mar;77(3):410-3. doi: 10.1016/j.ijporl.2012.11.042. Epub 2012 Dec 27.

PMID:
23273637
2.

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
3.

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.

4.

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.

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.

6.

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.

7.

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
8.

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
9.

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.

10.

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.

Eur J Hum Genet. 2008 Aug;16(8):888-96. doi: 10.1038/ejhg.2008.30. Epub 2008 Feb 20.

11.

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
12.

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
13.

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

Yao G, Li S, Chen D, Wang H, Zhang J, Feng Z, Guo L, Yang Z, Yang S, Sun C, Zhang X, Ma D.

Int J Pediatr Otorhinolaryngol. 2013 Apr;77(4):544-9. doi: 10.1016/j.ijporl.2013.01.002. Epub 2013 Feb 4.

PMID:
23385134
14.

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M.

Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):832-6. doi: 10.1016/j.ijporl.2012.02.053. Epub 2012 Mar 18.

PMID:
22429511
15.

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
16.

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.

J Hum Genet. 2007;52(6):492-7. Epub 2007 Apr 19.

PMID:
17443271
17.

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.

18.

[Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia].

Yuan YY, Dai P, Zhu XH, Kang DY, Zhang X, Huang DL.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2009 Apr;44(4):292-6. Chinese.

PMID:
19558834
19.

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
20.

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.

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