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Items: 18

1.

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.

Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T.

Orphanet J Rare Dis. 2017 Sep 25;12(1):157. doi: 10.1186/s13023-017-0708-z.

2.

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.

Bai H, Yang X, Temuribagen, Guilan, Suyalatu, Narisu, Wu H, Chen Y, Liu Y, Wu Q.

BMC Med Genet. 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34.

3.

Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.

Choi BY, Kim J, Chung J, Kim AR, Mun SJ, Kang SI, Lee SH, Kim N, Oh SH.

PLoS One. 2014 May 9;9(5):e97040. doi: 10.1371/journal.pone.0097040. eCollection 2014.

4.

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Su Y, Tang WX, Gao X, Yu F, Dai ZY, Zhao JD, Lu Y, Ji F, Huang SS, Yuan YY, Han MY, Song YS, Zhu YH, Kang DY, Han DY, Dai P.

PLoS One. 2014 Feb 21;9(2):e89240. doi: 10.1371/journal.pone.0089240. eCollection 2014.

5.

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

Legan PK, Goodyear RJ, Morín M, Mencia A, Pollard H, Olavarrieta L, Korchagina J, Modamio-Hoybjor S, Mayo F, Moreno F, Moreno-Pelayo MA, Richardson GP.

Hum Mol Genet. 2014 May 15;23(10):2551-68. doi: 10.1093/hmg/ddt646. Epub 2013 Dec 20.

6.

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.

King DA, Fitzgerald TW, Miller R, Canham N, Clayton-Smith J, Johnson D, Mansour S, Stewart F, Vasudevan P, Hurles ME; DDD Study.

Genome Res. 2014 Apr;24(4):673-87. doi: 10.1101/gr.160465.113. Epub 2013 Dec 19.

7.

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

8.

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

Li Z, Guo Y, Lu Y, Li J, Jin Z, Li H, Lu Y, Dai P, Han D, Cheng J, Yuan H.

PLoS One. 2013 Jul 31;8(7):e70134. doi: 10.1371/journal.pone.0070134. Print 2013.

9.

Digenic inheritance in medical genetics.

Schäffer AA.

J Med Genet. 2013 Oct;50(10):641-52. doi: 10.1136/jmedgenet-2013-101713. Epub 2013 Jun 19. Review.

10.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.

Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.

11.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

12.

Modifiers of hearing impairment in humans and mice.

Yan D, Liu XZ.

Curr Genomics. 2010 Jun;11(4):269-78. doi: 10.2174/138920210791233054.

13.

The tectorial membrane: one slice of a complex cochlear sandwich.

Richardson GP, Lukashkin AN, Russell IJ.

Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):458-64. doi: 10.1097/MOO.0b013e32830e20c4. Review.

14.

Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.

Moreno-Pelayo MA, Goodyear RJ, Mencía A, Modamio-Høybjør S, Legan PK, Olavarrieta L, Moreno F, Richardson GP.

J Assoc Res Otolaryngol. 2008 Jun;9(2):202-14. doi: 10.1007/s10162-008-0116-0. Epub 2008 May 2.

15.

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H.

Hum Mutat. 2008 Apr;29(4):545-54. doi: 10.1002/humu.20693.

16.

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW.

J Assoc Res Otolaryngol. 2006 Jun;7(2):173-81. Epub 2006 Apr 25.

17.

Strain background effects and genetic modifiers of hearing in mice.

Johnson KR, Zheng QY, Noben-Trauth K.

Brain Res. 2006 May 26;1091(1):79-88. Epub 2006 Mar 31. Review.

18.

At the speed of sound: gene discovery in the auditory system.

Resendes BL, Williamson RE, Morton CC.

Am J Hum Genet. 2001 Nov;69(5):923-35. Epub 2001 Sep 27. Review.

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