Lisbeth Tranebjærg
Professor emeritus.
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"Mitochondrial diseases caused by mutations in inner membrane chaperone proteins"Book title: "Mitochondrial disorders Caused by Nuclear Genes"
Tranebjærg, Lisbeth, 2012, "Mitochondrial diseases causes by mutatons in inner membrane chaperone proteins". Wong, L-J. (ed.).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Wortmann, S. B., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjærg, Lisbeth, de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E. & Wevers, R. A., 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 913-921Research output: Contribution to journal › Journal article › Research › peer-review
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WFS1-Related Disorders
Tranebjærg, Lisbeth, Barrett, T. & Rendtorff, N., 19 Dec 2013, In: GeneReviews. p. 1-26 26 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Nyegaard, M., Rendtorff, N. D., Nielsen, M. S., Corydon, T. J., Demontis, D., Starnawska, A., Hedemand, A., Buniello, A., Niola, F., Overgaard, M. T., Leal, S. M., Ahmad, W., Wikman, F. P., Petersen, K. B., Crueger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Froedin, M., Steel, K. P. & 2 others, , Jul 2015, In: P L o S Genetics. 11, 7, p. 1-25 25 p., e1005386.Research output: Contribution to journal › Journal article › Research › peer-review
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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
Hartel, B. P., Lofgren, M., Huygen, P. L. M., Guchelaar, I., Kort, N. L., Sadeghi, A. M., van Wijki, E., Tranebjærg, Lisbeth, Kremer, H., Kimberling, W. J., Cremers, C. W. R. J., Moller, C. & Pennings, R. J. E., Sep 2016, In: Hearing Research. 339, p. 60-68Research output: Contribution to journal › Journal article › Research › peer-review
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A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schäffer, A. A., Friedman, T. B., Morell, R. J., Tranebjærg, Lisbeth & Griffith, A. J., 2017, In: Journal of Medical Genetics. 54, 10, p. 665-673 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Zazo Seco, C., Castells-Nobau, A., Joo, S-H., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjærg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., Baets, J. & 10 others, , Feb 2017, In: Disease models & mechanisms. 10, p. 105-118 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjærg, Lisbeth, Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A. & Hofstra, R. M. W., Aug 2012, In: Human Mutation. 33, 8, p. 1251-1260 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment
Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A. & Tranebjærg, Lisbeth, 2006, In: European Journal of Human Genetics. 14, 10, p. 1097-1105 8 p.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
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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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155
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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