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Page 1
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. 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
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Rendtorff ND, et al. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC article.
The Jervell and Lange-Nielsen syndrome.
Bitner-Glindzicz M, Tranebjaerg L. Bitner-Glindzicz M, et al. Adv Otorhinolaryngol. 2000;56:45-52. doi: 10.1159/000059080. Adv Otorhinolaryngol. 2000. PMID: 10868213 Review. No abstract available.
Clinical utility gene card for: Wolfram syndrome.
Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R. Moosajee M, et al. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49. Epub 2016 May 25. Eur J Hum Genet. 2016. PMID: 27222289 Free PMC article. No abstract available.
141 results