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Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ. Hildebrand MS, et al. Among authors: van rybroek jm, van camp g. Am J Med Genet A. 2009 Feb;149A(2):280-5. doi: 10.1002/ajmg.a.32618. Am J Med Genet A. 2009. PMID: 19161137 Free PMC article. No abstract available.
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. Hildebrand MS, et al. Among authors: van camp g. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520338 Free PMC article.
Non-syndromic hearing impairment: gene linkage and cloning.
Smith RJ, Van Camp G. Smith RJ, et al. Among authors: van camp g. Int J Pediatr Otorhinolaryngol. 1999 Oct 5;49 Suppl 1:S159-63. doi: 10.1016/s0165-5876(99)00153-6. Int J Pediatr Otorhinolaryngol. 1999. PMID: 10577797
The role of connexins in human disease.
Chang EH, Van Camp G, Smith RJ. Chang EH, et al. Among authors: van camp g. Ear Hear. 2003 Aug;24(4):314-23. doi: 10.1097/01.AUD.0000079801.55588.13. Ear Hear. 2003. PMID: 12923422 Review.
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJH. Van Laer L, et al. Among authors: van camp g. J Hum Genet. 2007;52(6):549-552. doi: 10.1007/s10038-007-0137-2. Epub 2007 Apr 11. J Hum Genet. 2007. PMID: 17427029
552 results