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Items: 1 to 20 of 137

1.

Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome.

Chen K, Zhou W, Zong L, Liu M, Du J, Jiang H.

Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1633-6. doi: 10.1016/j.ijporl.2012.07.035. Epub 2012 Aug 18.

PMID:
22906308
2.

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

Huang CJ, Lei TH, Chang WL, Tu TY, Shiao AS, Chiu CY, Jap TS.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1495-9. doi: 10.1016/j.ijporl.2013.06.017. Epub 2013 Jul 6.

PMID:
23838540
3.

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
4.

Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.

Chen J, Wei Q, Yao J, Qian X, Dai Y, Yang Y, Cao X, Gao X.

Int J Audiol. 2013 Feb;52(2):134-8. doi: 10.3109/14992027.2012.723142. Epub 2012 Nov 14.

PMID:
23151031
5.

A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss.

Kim Y, Kim HR, Kim J, Shin JW, Park HJ, Choi JY, Kim UK, Lee KA.

Biochem Biophys Res Commun. 2013 Jan 18;430(3):1147-50. doi: 10.1016/j.bbrc.2012.12.022. Epub 2012 Dec 14.

PMID:
23246836
6.

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K.

Int J Pediatr Otorhinolaryngol. 2014 Nov;78(11):1828-32. doi: 10.1016/j.ijporl.2014.08.035. Epub 2014 Sep 1.

PMID:
25239229
7.

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.

8.

Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.

Zhang F, Bai X, Xiao Y, Zhang X, Zhang G, Li J, Xu L, Wang H.

Int J Pediatr Otorhinolaryngol. 2016 Jun;85:75-9. doi: 10.1016/j.ijporl.2016.03.020. Epub 2016 Mar 22.

PMID:
27240500
9.

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.

Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL.

Genet Med. 2008 Aug;10(8):586-92. doi: 10.1097GIM.0b013e31817d2ef1.

PMID:
18641518
10.

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
11.

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
12.

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.

13.

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
14.

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

Wolf A, Frohne A, Allen M, Parzefall T, Koenighofer M, Schreiner MM, Schoefer C, Frei K, Lucas T.

Otol Neurotol. 2017 Feb;38(2):173-179. doi: 10.1097/MAO.0000000000001286.

PMID:
27861301
15.

[Analysis of the hereditary etiology of 336 patients with non-syndromic sensorineural hearing loss from Ningxia Hui Autonomous Region of China].

Wang YL, Zhu YM, Liu XW, Xu BC, Guo YF, Wang QJ.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Sep;47(9):760-3. Chinese.

PMID:
23141447
16.

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.

Yazdanpanahi N, Tabatabaiefar MA, Bagheri N, Azadegan Dehkordi F, Farrokhi E, Hashemzadeh Chaleshtori M.

Int J Audiol. 2015 Feb;54(2):124-30. doi: 10.3109/14992027.2014.944276. Epub 2014 Oct 7.

PMID:
25290043
17.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Fu C, Zheng H, Zhang S, Chen Y, Su J, Wang J, Xie B, Hu X, Fan X, Luo J, Li C, Chen R, Shen Y, Chen S.

Arch Endocrinol Metab. 2016 Aug;60(4):323-7. doi: 10.1590/2359-3997000000108. Epub 2016 Feb 16.

18.

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.

19.

[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China].

Dai P, Yuan YY, Kang DY, Li Q, Zhu QW, Zhang X, Liu LX, Liu X, Huang DL.

Zhonghua Yi Xue Za Zhi. 2007 Sep 25;87(36):2521-5. Chinese.

PMID:
18067822
20.

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Banghova K, Al Taji E, Cinek O, Novotna D, Pourova R, Zapletalova J, Hnikova O, Lebl J.

Eur J Pediatr. 2008 Jul;167(7):777-83. Epub 2007 Sep 18.

PMID:
17876604

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