Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
61 - 70 out of 113Page size: 10
  1. 2012
  2. Published

    The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    Ha, A. D., Parratt, K. L., Rendtorff, N. D., Lodahl, M., Ng, K., Rowe, D. B., Sue, C. M., Hayes, M. W., Tranebjærg, Lisbeth & Fung, V. S. C., 2012, In: Movement Disorders. 27, 8, p. 1034-40 7 p.

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

  3. 2011
  4. Published

    A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

    Koppelhus, U., Tranebjærg, Lisbeth, Esberg, G., Ramsing, M., Lodahl, M., Rendtorff, N. D., Olesen, H. V., Sommerlund, M., Koppelhus, U., Tranebjærg, Lisbeth, Esberg, G., Ramsing, M., Lodahl, M., Rendtorff, N. D., Olesen, H. V. & Sommerlund, M., 1 Mar 2011, In: Clinical and Experimental Dermatology. 36, 2, p. 142-8 7 p.

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

  5. 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

  6. Published

    Two new cases with microdeletion of 17Q23.2 suggest presence of af candidate gene for sensorineural hearing loss within this region.

    Tranebjærg, Lisbeth, Jan 2011, In: American Journal of Medical Genetics.

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

  7. Published

    Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

    Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A. C. J. W., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J. & 32 others, Tranebjærg, Lisbeth, van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J., Cornel, M. C., Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A. C. J. W., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J., Tranebjærg, Lisbeth, van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J. & Cornel, M. C., 2011, In: European Journal of Human Genetics. 19 Suppl 1, p. S6-44

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

  8. 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

  9. Published

    Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    Chen, N., Tranebjærg, Lisbeth, Rendtorff, N. D., Schrijver, I., Chen, N., Tranebjærg, Lisbeth, Rendtorff, N. D. & Schrijver, I., 2011, In: The Journal of molecular diagnostics : JMD. 13, 4, p. 416-26 11 p.

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

  10. Published

    Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

    Schönewolf-Greulich, B., Ronan, A., Ravn, K., Baekgaard, P., Lodahl, M., Nielsen, K., Rendtorff, N. D., Tranebjærg, Lisbeth, Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2011, In: American Journal of Medical Genetics. Part A. 155A, 12, p. 2964-9 6 p.

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

  11. 2010
  12. Published

    Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

    Sun, C., Van Ghelue, M., Tranebjærg, Lisbeth, Thyssen, F., Nilssen, O., Torbergsen, T., Sun, C., Van Ghelue, M., Tranebjærg, Lisbeth, Thyssen, F., Nilssen, O. & Torbergsen, T., 15 Dec 2010, In: Dysmorphology and Clinical Genetics.

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

  13. Published

    Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

    Skirton, H., Lewis, C., Kent, A., Coviello, D. A., Members of Eurogentest Unit 6 and ESHG Education Committee, M. O. E. U. 6. A. E. E. C. & Tranebjærg, Lisbeth, 1 Sep 2010, In: European Journal of Human Genetics. 18, 9, p. 972-7 6 p.

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

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