Lisbeth Tranebjærg
Professor emeritus.
- 2021
- Published
Deciphering the premature mortality in PIGA-CDG – An untold story
Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2021, In: Frontiers in Cell and Developmental Biology. 9, 664317.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease
Charlton, J. R., Tan, W., Daouk, G., Teot, L., Rosen, S., Bennett, K. M., Cwiek, A., Nam, S., Emma, F., Jouret, F., Oliveira, J. P., Tranebjærg, Lisbeth, Frykholm, C., Mane, S., Hildebrandt, F., Srivastava, T., Storm, T., Christensen, E. I. & Nielsen, R., 2020, In: American journal of physiology. Renal physiology. 319, 6, p. F988-F999Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2020, In: Epilepsia. 61, 6, p. 1142-1155Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome
Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, Amelie, Birkebæk, N. H., Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, A. T., Petersen, M. B. & Tranebjærg, Lisbeth, 2020, In: European Journal of Medical Genetics. 63, 3, 6 p., 103733.Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA
Mey, K., Muhamad, A. A., Tranebjærg, Lisbeth, Rendtorff, N. D., Rasmussen, S. H., Bille, M. & Cayé-Thomasen, Per, Nov 2019, In: The Laryngoscope. 129, 11, p. 2574-2579 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Oral therapy for riboflavin transporter deficiency: What is the regimen of choice?
Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjærg, Lisbeth, Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S. & Puschmann, A., Apr 2019, In: Parkinsonism and Related Disorders. 61, p. 245-247Research output: Contribution to journal › Letter › Research › peer-review
- Published
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs
Mikkelsen, K. S., Tranebjærg, Lisbeth & Mey, K., Mar 2019, In: Cochlear Implants International. 20, 2, p. 100-103 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct
Mey, K., Bille, M., Rye Rasmussen, S. H., Tranebjærg, Lisbeth & Cayé-Thomasen, Per, Mar 2019, In: Otology & Neurotology. 40, 3, p. e178-e185 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Functional assessment of variants associated with Wolfram syndrome
Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, Lisbeth, Rendtorff, N. D., Bitner-Glindzicz, M., Bockenhauer, D. & Hussain, K., 2019, In: Human Molecular Genetics. 28, 22, p. 3815-3824 10 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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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
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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