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Items: 1 to 20 of 160

1.

Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss.

Yazdanpanahi N, Chaleshtori MH, Tabatabaiefar MA, Noormohammadi Z, Farrokhi E, Najmabadi H, Shahbazi S, Hosseinipour A.

Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):845-50. doi: 10.1016/j.ijporl.2012.02.056. Epub 2012 Mar 23.

PMID:
22444735
2.

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
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 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
5.

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
6.

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
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.

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

Muskett JA, Chattaraj P, Heneghan JF, Reimold FR, Shmukler BE, Brewer CC, King KA, Zalewski CK, Shawker TH, Butman JA, Kenna MA, Chien WW, Alper SL, Griffith AJ.

Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20.

9.

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
10.

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
11.

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
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.

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
14.

[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].

Mironovich OL, Bliznetz EA, Markova TG, Geptner EN, Lalayants MR, Zelikovich EI, Tavartkiladze GA, Polyakov AV.

Genetika. 2017 Jan;53(1):88-99. Russian.

PMID:
29372807
15.

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
16.

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.

17.

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.

Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.

18.

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H.

Int J Pediatr Otorhinolaryngol. 2012 Feb;76(2):268-71. doi: 10.1016/j.ijporl.2011.11.019. Epub 2011 Dec 14.

PMID:
22172221
19.

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.

20.

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.

Gonçalves AC, Santos R, O'Neill A, Escada P, Fialho G, Caria H.

Acta Otorhinolaryngol Ital. 2016 Jun;36(3):233-8. doi: 10.14639/0392-100X-889.

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