Lisbeth Tranebjærg
Professor emeritus.
- 2012
- Published
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
Yuca, S. A., Rendtorff, N. D., Boulahbel, H., Lodahl, M., Tranebjærg, Lisbeth, Cesur, Y., Dogan, M., Yilmaz, C., Akgun, C. & Acikgoz, M., 2012, In: European Journal of Medical Genetics. 55, 1, p. 37-42 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 2011
- 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
- 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, , 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
- 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
- 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, , 2011, In: European Journal of Human Genetics. 19 Suppl 1, p. S6-44Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- 2010
- 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
ID: 1571395
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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
Published -
186
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Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
166
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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