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Items: 1 to 20 of 127

1.

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H.

Hum Mutat. 2005 Dec;26(6):591.

PMID:
16287143
2.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G.

Clin Genet. 2008 Sep;74(3):223-32. doi: 10.1111/j.1399-0004.2008.01053.x. Epub 2008 Jul 9.

3.

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

Sirmaci A, Duman D, Oztürkmen-Akay H, Erbek S, Incesulu A, Oztürk-Hişmi B, Arici ZS, Yüksel-Konuk EB, Taşir-Yilmaz S, Tokgöz-Yilmaz S, Cengiz FB, Aslan I, Yildirim M, Hasanefendioğlu-Bayrak A, Ayçiçek A, Yilmaz I, Fitoz S, Altin F, Ozdağ H, Tekin M.

Int J Pediatr Otorhinolaryngol. 2009 May;73(5):699-705. doi: 10.1016/j.ijporl.2009.01.005. Epub 2009 Feb 1.

PMID:
19187973
4.

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.

Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchène J, Said MB, Lahmar I, Benzina Z, Charfedine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.

Audiol Neurootol. 2008;13(4):213-8. doi: 10.1159/000115430. Epub 2008 Feb 7.

PMID:
18259073
5.

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.

PLoS One. 2014 Jun 20;9(6):e100146. doi: 10.1371/journal.pone.0100146. eCollection 2014.

6.

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.

Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD.

Hum Mutat. 2005 Jan;25(1):100.

PMID:
15605408
7.

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Kalay E, Caylan R, Kremer H, de Brouwer AP, Karaguzel A.

Hear Res. 2005 May;203(1-2):88-93.

PMID:
15855033
8.

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

Zhao Y, Wang D, Zong L, Zhao F, Guan L, Zhang P, Shi W, Lan L, Wang H, Li Q, Han B, Yang L, Jin X, Wang J, Wang J, Wang Q.

PLoS One. 2014 May 14;9(5):e97064. doi: 10.1371/journal.pone.0097064. eCollection 2014.

9.

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Gao X, Huang SS, Yuan YY, Wang GJ, Xu JC, Ji YB, Han MY, Yu F, Kang DY, Lin X, Dai P.

Am J Med Genet A. 2015 Oct;167A(10):2357-65. doi: 10.1002/ajmg.a.37206. Epub 2015 Jun 16.

10.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H.

Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5.

11.

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.

Hu J, Liu F, Xia W, Hao L, Lan J, Zhu Z, Ye J, Ma D, Ma Z.

J Transl Med. 2016 Jan 28;14:29. doi: 10.1186/s12967-016-0780-5.

12.

Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.

Yilmaz A, Menevse S, Bayazit Y, Karamert R, Ergin V, Menevse A.

Biochem Genet. 2010 Apr;48(3-4):248-56. doi: 10.1007/s10528-009-9314-7. Epub 2009 Nov 26.

PMID:
19941053
13.

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.

Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S.

Genet Test Mol Biomarkers. 2010 Jun;14(3):307-11. doi: 10.1089/gtmb.2009.0174.

14.

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.

Hum Mutat. 2006 Jul;27(7):633-9.

PMID:
16752389
15.

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.

Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):29-33. doi: 10.1089/gtmb.2010.0120. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663.

PMID:
21117948
16.

A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect.

Davoudi-Dehaghani E, Zeinali S, Mahdieh N, Shirkavand A, Bagherian H, Tabatabaiefar MA.

Int J Pediatr Otorhinolaryngol. 2013 May;77(5):821-6. doi: 10.1016/j.ijporl.2013.02.021. Epub 2013 Mar 21.

PMID:
23523375
17.

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM.

Hum Mutat. 2005 Oct;26(4):396.

18.

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H, Cremers CW.

Audiol Neurootol. 2011;16(2):93-105. doi: 10.1159/000313282. Epub 2010 Jun 26.

PMID:
21252500
19.

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.

Clin Genet. 2003 Jul;64(1):65-9.

PMID:
12791041
20.

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H.

Am J Med Genet A. 2011 May;155A(5):1202-11. doi: 10.1002/ajmg.a.33209. Epub 2011 Apr 11. Review.

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