John Rosendahl Østergaard

  1. 2018
  2. Published

    Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. / Regalado, Ellen S; Mellor-Crummey, Lauren; De Backer, Julie; Braverman, Alan C; Ades, Lesley; Benedict, Susan; Bradley, Timothy J; Brickner, M Elizabeth; Chatfield, Kathryn C; Child, Anne; Feist, Cori; Holmes, Kathryn W; Iannucci, Glen; Lorenz, Birgit; Mark, Paul; Morisaki, Takayuki; Morisaki, Hiroko; Morris, Shaine A; Mitchell, Anna L; Ostergaard, John R; Richer, Julie; Sallee, Denver; Shalhub, Sherene; Tekin, Mustafa; Estrera, Anthony; Musolino, Patricia; Yetman, Anji; Pyeritz, Reed; Milewicz, Dianna M; Montalcino Aortic Consortium.

    In: Genetics in Medicine, Vol. 20, No. 10, 10.2018, p. 1206-1215.

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

  3. Published

    Two Cockayne Syndrome patients with a novel splice site mutation – clinical and metabolic analyses. / Sanchez-Roman, Ines; Lautrup, Sofie; Aamann, Maria Diget; Neilan, Edward G.; Østergaard, John R.; Stevnsner, Tinna.

    In: Mechanisms of Ageing and Development, Vol. 175, 10.2018, p. 7-16.

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

  4. 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

  5. Published

    DNA hypermethylation and differential gene expression associated with Klinefelter syndrome. / Skakkebæk, Anne; Nielsen, Morten Muhlig; Trolle, Christian; Vang, Søren; Hornshøj, Henrik; Hedegaard, Jakob; Wallentin, Mikkel; Bojesen, Anders; Hertz, Jens Michael; Fedder, Jens; Østergaard, John Rosendahl; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg.

    In: Scientific Reports, Vol. 8, No. 1, 13740, 13.09.2018.

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

  6. Published

    Respiratory distress syndrome in preterm infants and risk of epilepsy in a Danish cohort. / Thygesen, Sandra Kruchov; Olsen, Morten Smærup; Pedersen, Lars; Henderson, Victor W; Østergaard, John Rosendahl; Sørensen, Henrik Toft.

    In: European Journal of Epidemiology, Vol. 33, No. 3, 2018.

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

  7. 2017
  8. Published

    Constipation in adults with neurofibromatosis type 1. / Ejerskov, Cecilie; Krogh, Klaus; Ostergaard, John R; Fassov, Janne L; Haagerup, Annette.

    In: Orphanet Journal of Rare Diseases, Vol. 12, No. 1, 139, 2017.

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

  9. Published

    Nance-Horan Syndrome - The Oral Perspective on a Rare Disease. / Gjørup, Hans; Haubek, Dorte; Jacobsen, Pernille Endrup; Østergaard, John Rosendahl.

    In: American Journal of Medical Genetics. Part A, Vol. 173, No. 1, 2017, p. 88-98.

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

  10. 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

  11. Published

    Fetal Heart Defects and Disrupted Cerebral Growth: A Cohort Study in 63,201 Fetuses. / Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie; Uldbjerg, Niels; Henriksen, Tine Brink; Østergaard, John Rosendahl; Matthiesen, Niels Bjerregård; Hjortdal, Vibeke E.

    2017. Abstract from 2nd jENS - Congress of joint European Neonatal Societies, Venedig, Italy.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  12. Published

    Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. / Møller, Lisbeth Birk; Schönewolf-Greulich, Bitten; Rosengren, Thomas; Larsen, Lasse Jonsgaard; Ostergaard, John R; Sommerlund, Mette; Ostenfeldt, Caroline; Stausbøl-Grøn, Brian; Linnet, Karen Markussen; Gregersen, Pernille Axél; Jensen, Uffe Birk.

    In: Molecular Genetics and Metabolism, Vol. 120, No. 4, 04.2017, p. 384-391.

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

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