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Items: 1 to 20 of 120

1.
2.

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.

3.

Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

Hilgert N, Monahan K, Kurima K, Li C, Friedman RA, Griffith AJ, Van Camp G.

J Hum Genet. 2009 Mar;54(3):188-90. doi: 10.1038/jhg.2009.1. Epub 2009 Jan 30.

4.

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.

Makishima T, Kurima K, Brewer CC, Griffith AJ.

Otol Neurotol. 2004 Sep;25(5):714-9.

PMID:
15354000
5.

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.

PMID:
26079994
6.

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
7.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

8.

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H, Kurima K, Kawashima Y, Griffith AJ.

Auris Nasus Larynx. 2014 Oct;41(5):399-408. doi: 10.1016/j.anl.2014.04.001. Epub 2014 Jun 2.

9.

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.

10.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ.

Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30.

11.

Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Imtiaz A, Maqsood A, Rehman AU, Morell RJ, Holt JR, Friedman TB, Naz S.

Neurogenetics. 2016 Apr;17(2):115-23. doi: 10.1007/s10048-016-0477-1. Epub 2016 Feb 16.

PMID:
26879195
12.

[Advances in hereditary hearing loss caused by TMC1 mutations].

Wu K, Wang H, Wang Q.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Mar;51(3):224-9. doi: 10.3760/cma.j.issn.1673-0860.2016.03.016. Chinese.

PMID:
27033582
13.

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
14.

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

Bramhall NF, Kallman JC, Verrall AM, Street VA.

BMC Med Genet. 2008 Jun 2;9:48. doi: 10.1186/1471-2350-9-48.

15.

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ.

Clin Genet. 2007 Dec;72(6):546-50. Epub 2007 Sep 17.

PMID:
17877751
16.

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Gao X, Su Y, Guan LP, Yuan YY, Huang SS, Lu Y, Wang GJ, Han MY, Yu F, Song YS, Zhu QY, Wu J, Dai P.

PLoS One. 2013 May 14;8(5):e63026. doi: 10.1371/journal.pone.0063026. Print 2013.

17.

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD.

Hum Mutat. 1999;14(6):493-501.

PMID:
10571947
18.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.

Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Erratum in: Arch Otolaryngol Head Neck Surg. 2011 Jul;137(7):711.

19.

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

Sun Y, Zhang Z, Cheng J, Lu Y, Yang CL, Luo YY, Yang G, Yang H, Zhu L, Zhou J, Yao HQ.

J Hum Genet. 2015 Jun;60(6):299-304. doi: 10.1038/jhg.2015.19. Epub 2015 Mar 26.

PMID:
25809937
20.

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

Wang H, Zhao Y, Yi Y, Gao Y, Liu Q, Wang D, Li Q, Lan L, Li N, Guan J, Yin Z, Han B, Zhao F, Zong L, Xiong W, Yu L, Song L, Yi X, Yang L, Petit C, Wang Q.

PLoS One. 2014 Aug 12;9(8):e103133. doi: 10.1371/journal.pone.0103133. eCollection 2014.

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