Lisbeth Tranebjærg
Professor emeritus.
- 1997
- Published
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
Schwarz, M., Sørensen, N., Hansen, F. J., Hertz, J. M., Nørby, S., Tranebjærg, Lisbeth & Skovby, F., 1997, In: Human Molecular Genetics. 6, 1, p. 99-104Research output: Contribution to journal › Journal article › Research › peer-review
- 1998
- Published
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores
Wandall, A., Tranebjærg, Lisbeth & Tommerup, Niels, 1998, In: Chromosoma. 107, 6-7, p. 359-65 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses
Kreiner, Claus Thustrup, Bugge, Merete, Brandt, C. A., Hertz, J. M., Tranebjærg, Lisbeth, Mikkelsen, M. & Petersen, M. B., 1998, In: Clinical Genetics. 53, 4, p. 321-322Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Machado-Joseph disease in three Scandinavian families
Løkkegaard, T., Nielsen, J. E., Hasholt, Lis Frydenreich, Fenger, K., Werdelin, L., Tranebjærg, Lisbeth, Lauritzen, Martin, Colding-Jørgensen, E., Grønbech-Jensen, M., Henriksen, O. A. & Sørensen, S. A., 1998, In: Journal of Neurological Sciences. 156, 2, p. 152-157Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Non-disjunction of chromosome 18
Bugge, Merete, Collins, A., Petersen, M. B., Fisher, J., Brandt, C. A., Hertz, J. M., Tranebjærg, Lisbeth, de Lozier-Blanchet, C., Nicolaides, P., Brøndum-Nielsen, K., Morton, N. & Mikkelsen, M., 1998, In: Human Molecular Genetics. 7, 4, p. 661-669Research output: Contribution to journal › Journal article › Research › peer-review
- 2000
- Published
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia
Lund, A., Udd, B., Juvonen, V., Andersen, P. M., Cederquist, K., Ronnevi, L., Sistonen, P., Sørensen, S. A., Tranebjærg, Lisbeth, Wallgren-Pettersson, C. & Savontaus, M., 2000, In: European Journal of Human Genetics. 8, 8, p. 631-636Research output: Contribution to journal › Journal article › Research › peer-review
- 2001
- Published
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
Lund, A., Udd, B., Juvonen, V., Andersen, P. M., Cederquist, K., Davis, M., Cellera, C., Kölmel, C., Ronnevi, L., Sperfeld, A., Sørensen, S. A., Tranebjærg, Lisbeth, Van Maldergem, L., Watanabe, M., Weber, M. J., Yeung, L. & Savontaus, M., 2001, In: European Journal of Human Genetics. 9, 6, p. 431-436Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: Implications for acquired and congenital long QT syndrome
Larsen, Lars Allan, Andersen, P. S., Kanters, Jørgen K., Svendsen, I. H., Jacobsen, J. R., Vuust, J., Wetrell, G., Tranebjærg, Lisbeth & Christiansen, M., 2001, In: Clinical Chemistry. 47, 8, p. 1390-1395Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
Gaspar, C., Lopes-Cendes, I., Hayes, S., Goto, J., Arvidsson, K., Dias, A., Silveira, I., Maciel, P., Coutinho, P., Lima, M., Zhou, Y. X., Soong, B. W., Watanabe, M., Giunti, P., Stevanin, G., Riess, O., Sasaki, H., Hsieh, M., Nicholson, G. A., Brunt, E. & 10 others, , 1 Jan 2001, In: American Journal of Human Genetics. 68, 2, p. 523-528 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel: Implications for acquired and congenital long Q-T syndrome
Larsen, Lars Allan, Andersen, P. S., Kanters, Jørgen K., Svendsen, I. H., Jacobsen, J. R., Vuust, J., Wettrell, G., Tranebjærg, Lisbeth, Bathen, J. & Christiansen, M., 6 Aug 2001, In: Clinical Chemistry. 47, 8, p. 1390-1395 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
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200
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Research output: Contribution to journal › Journal article › Research › peer-review
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179
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Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
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156
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Research output: Contribution to journal › Journal article › Research › peer-review
Published