Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
26 - 50 out of 58Page size: 25
Sort by: Title
  1. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Østergaard, Elsebet, Jan 2016, In: American Journal of Medical Genetics. Part A. 170, 1, p. 142-147 6 p.

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

  2. Published

    Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay

    Coci, E. G., Galesi, O., Morgan, T., Giglio, S., Østergaard, Elsebet & Elia, M., 2023, In: Cytogenetic and Genome Research. 162, 7, p. 365-371 7 p.

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

  3. Published

    Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

    Barington, M., Dunø, M., Birkedal, U., Vissing, John, Born, A. P., Krag, T., Hansen, Thomas van Overeem & Østergaard, Elsebet, 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.

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

  4. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

    Kusk, M. S., Damgaard, B., Risom, L., Hansen, B. & Østergaard, Elsebet, Oct 2016, In: Neuropediatrics. 47, 5, p. 332-335 4 p.

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

  5. Published

    Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

    Dad, S., Østergaard, Elsebet, Thykjær, T., Albrechtsen, Anders, Ravn, K. J. T., Rosenberg, T. & Møller, L. B., 2010, In: Clinical Genetics. 78, 4, p. 388-397 10 p.

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

  6. Published

    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Dad, S., Østergaard, Elsebet, Wadt, K., Lunding, J., Eiberg, Hans Rudolf Lytchoff & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.

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

  7. Published

    Kromosomsygdomme

    Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 423-430

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  8. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  9. Published

    Medicinsk genetik

    Sunde, Lone (ed.) & Østergaard, Elsebet (ed.), 2022, 3 ed. FADL's Forlag.

    Research output: Book/Report › Anthology › Communication

  10. Published

    Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics

    du Mee, D. J. M., Bak, M., Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, In: Mitochondrion. 53, p. 255-259

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

  11. Published

    Mitokondriesygdomme

    Duno, M. & Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 385-392

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  12. Published

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Undiagnosed Diseases Network, U. D. N., 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.

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

  13. Published

    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

    Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., Mootha, V. K., Lek, M., Lunke, S., Stark, Z., Østergaard, Elsebet, Christodoulou, J., Thorburn, D. R., Stroud, D. A. & Compton, A. G., 2023, In: Human Molecular Genetics. 32, 15, p. 2441-2454 14 p.

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

  14. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Østergaard, Elsebet, Weraarpachai, W., Ravn, K. J. T., Born, A. P., Jønson, L., Dunø, M., Wibrand, F., Shoubridge, E. A. & Vissing, John, Mar 2015, In: Journal of Medical Genetics. 52, 3, p. 203-7 5 p.

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

  15. Published

    Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    Grønskov, K., Dooley, C. M., Østergaard, Elsebet, Kelsh, R. N., Hansen, Lars, Levesque, M. P., Vilhelmsen, K., Møllgård, Kjeld, Stemple, D. L. & Rosenberg, T., 7 Mar 2013, In: American Journal of Human Genetics. 92, 3, p. 415-21 7 p.

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

  16. Published

    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

    den Hollander, B., Rasing, A., Post, M. A., Klein, W. M., Oud, M. M., Brands, M. M., de Boer, L., Engelke, U. F. H., van Essen, P., Fuchs, S. A., Haaxma, C. A., Jensson, B. O., Kluijtmans, L. A. J., Lengyel, A., Lichtenbelt, K. D., Østergaard, E., Peters, G., Salvarinova, R., Simon, M. E. H., Stefansson, K. & 6 others, Thorarensen, Ó., Ulmen, U., Coene, K. L. M., Willemsen, M. A., Lefeber, D. J. & Karnebeek, C. D. M. V., 2021, In: Frontiers in Neurology. 12, 668640.

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

  17. Accepted/In press

    Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome

    Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, Thomas van Overeem, Birkedal, U., Østergaard, Elsebet & Hove, H. B., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

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

  18. Published

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A. & 66 others, Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, Elsebet, Pallares, N. R., Piccione, M., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, 18 p., 100075.

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

  19. Published

    Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

    Sofou, K., de Coo, I. F. M., Østergaard, Elsebet, Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., 2018, In: Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

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

  20. Published

    Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

    Björkman, K., Vissing, John, Østergaard, Elsebet, Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.

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

  21. Published

    Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report

    Guldberg, Frederikke, Larsen, C. C., Østergaard, Elsebet, Carlsen, Jonathan Frederik, Juhler, Marianne & Munch, Tina Nørgaard, 2024, In: Child's Nervous System. 40, 3, p. 947-951 5 p.

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

  22. Published

    Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    Duchatelet, S., Østergaard, Elsebet, Cortes, Dina, Lemainque, A. & Julier, C., 1 Jan 2005, In: Human Molecular Genetics. 14, 1, p. 1-5 5 p.

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

  23. Published

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Parasyri, M., Brandstroem, P., Uusimaa, J., Østergaard, Elsebet, Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Nascimento Osorio, A., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N. & Sofou, K., 2022, In: Kidney diseases. 8, 2, 12 p.

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

  24. Published

    Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

    Thomsen, L. L., Østergaard, Elsebet, Bjornsson, A., Stefansson, H., Fasquel, A. C., Gulcher, J., Stefansson, K. & Olesen, J., 2008, In: Cephalalgia. 28, 9, p. 914-921 7 p.

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

  25. Published

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Østergaard, Elsebet, de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 726-736 11 p.

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

Previous 1 2 3 Next

ID: 33970574