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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
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
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
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. Among authors: tranebjaerg l. 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.
Homozygosity mapping to the USH2A locus in two isolated populations.
Fagerheim T, Raeymaekers P, Merren J, Mani K, Jha GK, Baumbach L, Brox V, Breines E, Holdø BE, Holdø A, Tranebjaerg L. Fagerheim T, et al. Among authors: tranebjaerg l. J Med Genet. 1999 Feb;36(2):144-7. J Med Genet. 1999. PMID: 10051015 Free PMC article.
212 results