Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


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  1. Published

    Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

    Kokotas, H., Grigoriadou, M., Yang, L., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, L., Guan, M-X., Petersen, M. B., Kokotas, H., Grigoriadou, M., Li, Y., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S. & 6 others, Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, Lisbeth, Guan, M. & Petersen, M. B., 1 Jan 2011, In: International Journal of Pediatric Otorhinolaryngology. 75, 1, p. 89-94 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

    Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, Niels, Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, Lisbeth, 2022, In: Scientific Reports. 12, 14959.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

    Henriksen, A. M., Tümer, Asuman Zeynep, Tommerup, Niels, Tranebjærg, Lisbeth & Larsen, Lars Allan, 2004, In: Genetic Testing. 8, 4, p. 404-6 2 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, Lars, Bruhn, H., Möller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M. & Tranebjærg, Lisbeth, 2011, In: American Journal of Medical Genetics. Part A. 155, 6, p. 1298-313 16 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Individual Hearing Loss: Characterization, Modelling, Compensation Strategies

    Santurette, S., Dau, T., Christensen-Dalsgaard, J., Tranebjærg, Lisbeth, Andersen, T. & Poulsen, T., 26 Aug 2016, In: Trends in hearing. 20, p. 1-2 2 p.

    Research output: Contribution to journal › Editorial › Research › peer-review

  6. Published

    Jervell and Lange-Nielsen Syndrome in: GeneReviews at GeneTests

    Tranebjærg, Lisbeth, 2012, In: Medical Genetics Information Resource.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Jervell and Lange-Nielsen Syndrome.

    Tranebjærg, Lisbeth, Samson, R. & Green, G., 29 Jul 2002

    Research output: Other contribution › Net publication - Internet publication › Research › peer-review

  8. Published

    Lessons learned from 40 novel PIGA patients and a review of the literature

    Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A. M., Hansen, L. & 34 others, Jezela-Stanek, A., Karsenty, C., Kievit, A., Kooy, F. R., Korff, C. M., Kragh Hansen, J., Larsen, M., Layet, V., Lesca, G., McBride, K. L., Meuwissen, M., Mignot, C., Montomoli, M., Moore, H., Naudion, S., Nava, C., Nougues, M. C., Parrini, E., Pastore, M., Schelhaas, J. H., Skinner, S., Szczałuba, K., Thomas, A., Thomassen, M., Tranebjærg, Lisbeth, van Slegtenhorst, M., Wolfe, L. A., Lal, D., Gardella, E., Bomme Ousager, L., Brünger, T., Helbig, I., Krawitz, P. & Møller, R. S., 2020, In: Epilepsia. 61, 6, p. 1142-1155

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

    Ascari, G., Rendtorff, N. D., De Bruyne, M., De Zaeytijd, J., Van Lint, M., Bauwens, M., Van Heetvelde, M., Arno, G., Jacob, J., Creytens, D., Van Dorpe, J., Van Laethem, T., Rosseel, T., De Pooter, T., De Rijk, P., De Coster, W., Menten, B., Rey, A. D., Strazisar, M., Bertelsen, M. & 2 others, Tranebjærg, Lisbeth & De Baere, E., 2021, In: Frontiers in Cell and Developmental Biology. 9, 664317.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 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. 152-157

    Research output: Contribution to journal › Journal article › Research › peer-review

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