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Adaptive Processes in Hearing.
Santurette S, Christensen-Dalsgaard J, Tranebjærg L, Andersen T, Poulsen T, Dau T. Santurette S, et al. Among authors: tranebjaerg l. Trends Hear. 2018 Jan-Dec;22:2331216518762261. doi: 10.1177/2331216518762261. Trends Hear. 2018. PMID: 29532740 Free PMC article.
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ. Hartel BP, et al. Among authors: tranebjaerg l. Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16. Hear Res. 2016. PMID: 27318125
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M. Tranebjærg L, et al. Hum Genet. 2018 Feb;137(2):111-127. doi: 10.1007/s00439-017-1862-z. Epub 2018 Jan 5. Hum Genet. 2018. PMID: 29305691
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P, Munjal T, Honda K, Rendtorff ND, Ratay JS, Muskett JA, Risso DS, Roux I, Gertz EM, Schäffer AA, Friedman TB, Morell RJ, Tranebjærg L, Griffith AJ. Chattaraj P, et al. Among authors: tranebjaerg l. J Med Genet. 2017 Oct;54(10):665-673. doi: 10.1136/jmedgenet-2017-104721. Epub 2017 Aug 5. J Med Genet. 2017. PMID: 28780564 Free PMC article.
212 results