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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sørland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. Tyson J, et al. Among authors: tranebjaerg l. Hum Mol Genet. 1997 Nov;6(12):2179-85. doi: 10.1093/hmg/6.12.2179. Hum Mol Genet. 1997. PMID: 9328483
The Jervell and Lange-Nielsen syndrome.
Bitner-Glindzicz M, Tranebjaerg L. Bitner-Glindzicz M, et al. Among authors: tranebjaerg l. Adv Otorhinolaryngol. 2000;56:45-52. doi: 10.1159/000059080. Adv Otorhinolaryngol. 2000. PMID: 10868213 Review. No abstract available.
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sørland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M. Tyson J, et al. Among authors: tranebjaerg l. Hum Genet. 2000 Nov;107(5):499-503. doi: 10.1007/s004390000402. Hum Genet. 2000. PMID: 11140949
Functional assessment of variants associated with Wolfram syndrome.
Riachi M, Yilmaz S, Kurnaz E, Aycan Z, Çetinkaya S, Tranebjærg L, Rendtorff ND, Bitner-Glindzicz M, Bockenhauer D, Hussain K. Riachi M, et al. Among authors: tranebjaerg l. Hum Mol Genet. 2019 Nov 15;28(22):3815-3824. doi: 10.1093/hmg/ddz212. Hum Mol Genet. 2019. PMID: 31600780
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
Correction to: 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 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7. Hum Genet. 2018. PMID: 29435658
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