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Items: 1 to 20 of 206

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.

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
3.

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
4.

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
5.

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
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.

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
9.

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
10.

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.

11.

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
12.

Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.

Yazdanpanahi N, Tabatabaiefar MA, Farrokhi E, Abdian N, Bagheri N, Shahbazi S, Noormohammadi Z, Chaleshtori MH.

Clin Exp Otorhinolaryngol. 2013 Dec;6(4):201-8. doi: 10.3342/ceo.2013.6.4.201. Epub 2013 Nov 29.

13.

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, Garab├ędian EN, Couderc R, Marlin S, Denoyelle F.

Eur J Hum Genet. 2006 Jun;14(6):773-9.

14.

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
15.

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.

16.

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

Huang S, Han D, Wang G, Yuan Y, Song Y, Han M, Chen Z, Dai P.

Int J Pediatr Otorhinolaryngol. 2013 Mar;77(3):379-83. doi: 10.1016/j.ijporl.2012.11.031. Epub 2012 Dec 21.

PMID:
23266159
17.

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
18.

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
19.

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
20.

Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.

Hochman JB, Stockley TL, Shipp D, Lin VY, Chen JM, Nedzelski JM.

Otol Neurotol. 2010 Aug;31(6):919-22. doi: 10.1097/MAO.0b013e3181e3d324.

PMID:
20601923
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