Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 25 out of 57Page size: 25
  1. 1996
  2. Published

    The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®

    Larsen, Tove, Fiehn, Nils-Erik & Østergaard, Elsebet, 1 May 1996, In: Microbial Ecology in Health and Disease. 9, 3, p. 91-95 5 p.

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

  3. 2005
  4. 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

  5. 2008
  6. Published

    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

    Boonen, S. E., Pörksen, S., Mackay, D. J., Østergaard, Elsebet, Olsen, B., Brøndum-Nielsen, K., Temple, I. K. & Hahnemann, J. M., 2008, In: European Journal of Human Genetics. 16, 4, p. 453-61 8 p.

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

  7. 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

  8. 2009
  9. Published

    Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

    Janssen, R. J. R. J., Distelmaier, F., Smeets, R., Wijnhoven, T., Østergaard, Elsebet, Jaspers, N. G. J., Raams, A., Kemp, S., Rodenburg, R. J. T., Willems, P. H. M. G., van den Heuvel, L. P. W. J., Smeitink, J. A. M. & Nijtmans, L. G. J., 2009, In: Human Molecular Genetics. 18, 18, p. 3365-74 9 p.

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

  10. 2010
  11. 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

  12. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

    Østergaard, Elsebet, Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. & Holme, E., 1 Feb 2010, In: European Journal of Pediatrics. 169, 2, p. 201-5 5 p.

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

  13. 2013
  14. 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

  15. 2014
  16. 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

  17. 2015
  18. Published

    A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

    Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, Elsebet & Vissing, John, Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.

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

  19. 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

  20. 2016
  21. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    Rafiq, J., Duno, M., Østergaard, Elsebet, Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, John, 2016, JIMD Reports. Springer, Vol. 25. p. 65-70 (JIMD Reports).

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

  22. 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

  23. 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

  24. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M. & 14 others, Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Østergaard, Elsebet, Mar 2016, In: Journal of Inherited Metabolic Disease. 39, 2, p. 243-52 10 p.

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

  25. 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

  26. Published

    Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations

    Kacso, G., Ravasz, D., Doczi, J., Németh, B., Madgar, O., Saada, A., Ilin, P., Miller, C., Ostergaard, E., Iordanov, I., Adams, D., Vargedo, Z., Araki, M., Araki, K., Nakahara, M., Ito, H., Gál, A., Molnár, M. J., Nagy, Z., Patocs, A. & 2 others, Adam-Vizi, V. & Chinopoulos, C., 15 Oct 2016, In: Biochemical Journal. 473, 20, p. 3463-3485 23 p.

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

  27. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. D., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K. & 14 others, Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A., Østergaard, Elsebet, Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 768-775

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

  28. 2017
  29. Published

    Diagnostisk exomsekventering til udredning af syndromer

    Østergaard, Elsebet, Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 2017, In: Ugeskrift for Læger. 179, 5 p., V10160762.

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

  30. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

    Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., Wortmann, S. B. & 1 others, Additional individual contributors, A. I. C., Nov 2017, In: Journal of Inherited Metabolic Disease. 40, 6, p. 853-860 8 p.

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

  31. 2018
  32. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, Karen Bonde, Scheie, David, Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.

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

  33. Published

    A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

    Barington, M., Risom, L., Ek, J., Uldall, P. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.

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

  34. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D. & 37 others, Wenhong, D., Lamantea, E., Østergaard, Elsebet, Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 2018, In: Orphanet Journal of Rare Diseases. 13, 10 p., 120.

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

  35. 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

  36. 2019
  37. Published

    A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

    Altaraihi, M., Wadt, Karin Anna Wallentin, Ek, J., Gerdes, Anne-Marie Axø & Østergaard, Elsebet, 2019, In: Human Genome Variation. 6, 1, 10.

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

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ID: 33970574