John Rosendahl Østergaard

  1. Conference abstract in journal › Research › Not peer-reviewed
  2. Published

    Primary CNS vasculitis in children from Western Denmark. / Pradsgaard, Dan; Stausbøl-Grøn, Birgitte; Østergaard, John Rosendahl; Herlin, Troels.

    In: Annals of the Rheumatic Diseases, No. suppl 3, 2009, p. 306.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearch

  3. Comment/debate/letter to the editor › Research › Peer-reviewed
  4. Published

    Correction : Educational delay and attainment in persons with neurofibromatosis 1 in Denmark (European Journal of Human Genetics, (2019), 10.1038/s41431-019-0359-8). / Doser, Karoline; Kenborg, Line; Andersen, Elisabeth Wreford; Bidstrup, Pernille Envold; Kroyer, Anja; Hove, Hanne; Østergaard, John; Sørensen, Sven Asger; Johansen, Christoffer; Mulvihill, John; Winther, Jeanette Falck; Dalton, Susanne Oksbjerg.

    In: European Journal of Human Genetics, Vol. 27, No. 6, 06.2019, p. 994-996.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  5. Published

    Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391]. / Møller, L B; Schönewolf-Greulich, B; Rosengren, T; Larsen, L J; Ostergaard, J R; Sommerlund, M; Ostenfeldt, C; Stausbøl-Grøn, B; Linnet, K M; Gregersen, P A; Jensen, U B.

    In: Molecular Genetics and Metabolism, Vol. 125, No. 4, 12.2018, p. 361-361.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  6. Published

    Limited Clinical Application and Concerns of Bias in Long-term Risk of Epilepsy, Psychiatric Disorders, and Mortality Following Febrile Seizures. / Granild-Jensen, Jakob Bie; Matthiesen, Niels Bjerregaard; Østergaard, John R.

    In: JAMA Pediatrics, Vol. 174, No. 7, 07.2020, p. 729-730.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  7. Published

    Reply. / Matthiesen, Niels B; Østergaard, John R; Hjortdal, Vibeke E; Henriksen, Tine B.

    In: The Journal of Pediatrics, Vol. 230, 03.2021, p. 273-274.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  8. Comment/debate/letter to the editor › Research › Not peer-reviewed
  9. Published

    Evidence for an association between prematurity and enamel defects in permanent teeth is still relatively sparse. / Jacobsen, Pernille Endrup; Haubek, Dorte; Henriksen, Tine Brink; Ostergaard, John; Poulsen, Sven.

    In: European Journal of Oral Sciences Online, Vol. 122, No. 5, 2014, p. 361.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearch

  10. Review › Research › Peer-reviewed
  11. Published

    Cardiac pathology in neuronal ceroid lipofuscinoses (NCL) : More than a mere co-morbidity. / Rietdorf, Katja; Coode, Emily E; Schulz, Angela; Wibbeler, Eva; Bootman, Martin D; Ostergaard, John R.

    In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1866, No. 9, 165643, 2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  12. Published

    Gait phenotype in Batten disease : A marker of disease progression. / Ostergaard, John R.

    In: European Journal of Paediatric Neurology, Vol. 35, 11.2021, p. 1-7.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  13. Letter › Research › Peer-reviewed
  14. Published

    Do individuals with Angelman syndrome have a maladaptive behavior? / Ostergaard, John R.

    In: American Journal of Medical Genetics. Part A, Vol. 179, No. 11, 11.2019, p. 2317-2318.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperLetterResearchpeer-review

  15. Journal article › Research › Peer-reviewed
  16. Published

    22q11-deletionssyndrom. / Olesen, Charlotte; Agergaard, Peter Juul; Boers, Maria Gregers Christiansen; Farholt, Stense; Heilman, Carsten J; Hvidkjaer, Lut; Kristensen, Kurt; Lauritsen, Marlene B; Lunding, Jytte; Nielsen, Bent W; Skovby, Flemming; Thrane, Nana; Vogel, Ida; Østergaard, John R.

    In: Ugeskrift for Laeger, Vol. 172, No. 13, 29.03.2010, p. 1038-46.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  17. Published

    KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. / Cif, Laura; Demailly, Diane; Lin, Jean Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Deciphering Developmental Disorders Study; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Genomics England Research Consortium; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J ; Hamosh, Ada ; Hully, Marie; Jansen, Sandra ; Jeong, Suh Young ; Krier, Joel B ; Krystal, Sidney ; Kumar, Kishore R ; Laurencin, Chloé ; Lee, Hane; Lesca, Gaetan; François, Laurence Lion ; Lynch, Timothy ; Mahant, Neil ; Martinez-Agosto, Julian A ; Milesi, Christophe ; Mills, Kelly A; Mondain, Michel ; Morales-Briceno, Hugo ; NIHR BioResource ; Ostergaard, John R.; Undiagnosed Diseases Network.

    In: Brain : a journal of neurology, Vol. 143, No. 11, 11.2020, p. 3242-3261.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  18. Published

    A Possible Coexistence between Restless Leg Syndrom and Attention Deficit Hyperactivity Disorder. / Tilma, Jørgen; Thomsen, Per Hove; Ostergaard, John R.

    In: Ugeskrift for Laeger, Vol. 176, No. 4, 17.02.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  19. Published

    A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture. / Rasmussen, Maria; Pedersen, Steen Fjord; Sunde, Lone; Andersen, Niels Holmmark; Ostergaard, John R; Lildballe, Dorte L.

    In: Danish Medical Journal, Vol. 61, No. 11, A4949, 11.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  20. Published

    A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. / Munot, Pinki; Saunders, Dawn E; Milewicz, Dianna M; Regalado, Ellen S; Østergaard, John Rosendahl; Braun, Kees P; Kerr, Timothy; Lichtenbelt, Klaske D; Philip, Sunny; Rittey, Christopher; Jacques, Thomas S; Cox, Timothy C; Ganesan, Vijeya.

    In: Brain, Vol. 135, No. Pt 8, 2012, p. 2506-14.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  21. Published

    A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. / Pen, Anja E; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John R; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P M; Zhang, Xiuqing; Jensen, Uffe B.

    In: European Journal of Medical Genetics, Vol. 58, No. 4, 04.2015, p. 222-229.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  22. Published

    Aicardi-Goutières syndrome: neuroradiological findings after nine years of follow-up. / Østergaard, John R; Christensen, Thorkil.

    In: European Journal of Paediatric Neurology, Vol. 8, No. 5, 2004, p. 243-6.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  23. Published

    Akut dissemineret encefalomyelitis. Afgraensning, behandling, prognose og evidens. / Christensen, Pia Sønderby; Østergaard, John R.

    In: Ugeskrift for Laeger, Vol. 170, No. 21, 2008, p. 1839-42.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  24. Published

    Altered PLP1 splicing causes hypomyelination of early myelinating structures. / Kevelam, Sietske H; Taube, Jennifer R; van Spaendonk, Rosalina M L; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A; Bernard, Geneviève; Catsman-Berrevoets, Coriene E; van Karnebeek, Clara D M; Østergaard, John R; Friederich, Richard L; Fawzi Elsaid, Mahmoud; Schieving, Jolanda H; Tarailo-Graovac, Maja; Orcesi, Simona; Steenweg, Marjan E; van Berkel, Carola G M; Waisfisz, Quinten; Abbink, Truus E M; van der Knaap, Marjo S; Hobson, Grace M; Wolf, Nicole I.

    In: Annals of clinical and translational neurology, Vol. 2, No. 6, 02.06.2015, p. 648-61.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  25. Published

    Altered extracranial vascular reactivity in patients with cerebral arterial aneurysm: an in vitro study. / Østergaard, John Rosendahl; Voldby, B.

    In: Surgical Neurology, Vol. 15, No. 1, 1981, p. 47-50.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  26. Published

    Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis. / Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Brøndum Nielsen, Karen; Grønskov, Karen ; Østergaard, John Rosendahl.

    In: American Journal of Medical Genetics. Part A, Vol. 161, 2013, p. 2197-2203.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  27. Published

    Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. / Chang, Simon; Skakkebæk, Anne; Trolle, Christian; Bojesen, Anders; Hertz, Jens Michael; Cohen, Arieh; Hougaard, David Michael; Wallentin, Mikkel; Pedersen, Anders Degn; Østergaard, John Rosendahl; Gravholt, Claus Højbjerg.

    In: Journal of Clinical Endocrinology and Metabolism, Vol. 100, No. 3, jc20142834, 2015, p. E508-E517.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  28. Published

    Anticholinergic and calcium antagonistic effects of terodiline in rabbit urinary bladder. / Husted, S; Andersson, K.E.; Sommer, L; Østergaard, John Rosendahl.

    In: Acta pharmacologica et toxicologica, Vol. 46 Suppl 1, 1980, p. 20-30.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  29. Published

    Anxiety and depression in Klinefelter syndrome : The impact of personality and social engagement. / Skakkebæk, Anne; Moore, Philip J; Pedersen, Anders Degn; Bojesen, Anders; Kristensen, Maria Krarup; Fedder, Jens; Hertz, Jens Michael; Østergaard, John R; Wallentin, Mikkel; Gravholt, Claus Højbjerg.

    In: PLOS ONE, Vol. 13, No. 11, e0206932, 2018.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  30. Published

    Aortic events in a nationwide Marfan syndrome cohort. / Groth, Kristian A; Krag, Kirstine Stochholm; Hove, Hanne; Kyhl, Kasper; Gregersen, Pernille A; Vejlstrup, Niels; Østergaard, John R; Gravholt, Claus H; Andersen, Niels H.

    In: Clinical Research in Cardiology, 02.2017, p. 105-112.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  31. Published

    Association of intracranial aneurysm and arteriovenous malformation in childhood. / Østergaard, John Rosendahl.

    In: Neurosurgery, Vol. 14, No. 3, 1984, p. 358-62.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review