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Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: tranebjaerg l. N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262. N Engl J Med. 2007. PMID: 17314340 Free article.
Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.
Ross-Cisneros FN, Pan BX, Silva RA, Miller NR, Albini TA, Tranebjaerg L, Rendtorff ND, Lodahl M, Moraes-Filho MN, Moraes MN, Salomao SR, Berezovsky A, Belfort R Jr, Carelli V, Sadun AA. Ross-Cisneros FN, et al. Among authors: tranebjaerg l. Mitochondrion. 2013 Nov;13(6):841-5. doi: 10.1016/j.mito.2013.05.013. Epub 2013 Jun 6. Mitochondrion. 2013. PMID: 23748048
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. Rendtorff ND, et al. Among authors: tranebjaerg l. Eur J Hum Genet. 2006 Oct;14(10):1097-105. doi: 10.1038/sj.ejhg.5201670. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773128
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
212 results