John Rosendahl Østergaard

  1. Journal article
  2. Published

    Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment. / Ostergaard, John R; Graakjær, Jesper; Brandt, Carsten; Birkebæk, Niels H.

    In: European Journal of Medical Genetics, Vol. 55, 24.10.2012, p. 22-26.

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

  3. Published

    Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease). / Ostergaard, John R.

    In: Autonomic Neuroscience: Basic and Clinical, Vol. 214, 11.2018, p. 15-18.

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

  4. Published

    Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome. / Ostergaard, John R.

    In: American Journal of Medical Genetics. Part A, Vol. 167A, No. 9, 09.2015, p. 2138-44.

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

  5. Published

    Social, sproglig og kognitiv udvikling hos børn med Angelmans syndrom. / Ostergaard, John R; Trillingsgaard, Anegen.

    In: Ugeskrift for Laeger, Vol. 167, No. 15, 2005, p. 1630-3.

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

  6. Published

    Moebius sequence -a multidisciplinary clinical approach. / Pedersen, Line Kjeldgaard; Maimburg, Rikke Damkjær; Hertz, Jens Michael; Gjørup, Hans; Pedersen, Thomas Klit; Møller-Madsen, Bjarne; Østergaard, John Rosendahl.

    In: Orphanet Journal of Rare Diseases, Vol. 12, No. 4, 06.01.2017.

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

  7. Published

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. / Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève.

    In: The Journal of clinical endocrinology and metabolism, Vol. 106, No. 2, 02.2021, p. e660-e674.

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

  8. 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

  9. Published

    Primaer cerebral vaskulitis hos børn. / Pradsgaard, Dan Østergaard; Stausbøl-Grøn, Brian; Østergaard, John Rosendahl; Herlin, Troels.

    In: Ugeskrift for Laeger, Vol. 172, No. 27, 2010, p. 2029-33.

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

  10. Published

    Impact of child and family characteristics on cerebral palsy treatment. / Rackauskaite, Gija; Uldall, Peter W; Bech, Bodil Hammer; Østergaard, John R.

    In: Developmental Medicine and Child Neurology, Vol. 57, No. 10, 10.2015, p. 948-954.

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

  11. Published

    Management of cerebral palsy varies by healthcare region. / Rackauskaite, Gija; Uldall, Peter W; Bech, Bodil H; Østergaard, John R.

    In: Danish Medical Journal, Vol. 62, No. 11, 11.2015.

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

  12. Published

    Prevalence of mental disorders in children and adolescents with cerebral palsy : Danish nationwide follow-up study. / Rackauskaite, Gija; Bilenberg, Niels; Uldall, Peter; Bech, Bodil Hammer; Østergaard, John.

    In: European Journal of Paediatric Neurology, Vol. 27, 07.2020, p. 98-103.

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

  13. Published

    Reliability of GMFCS family report questionnaire. / Rackauskaite, Gija; Thorsen, Poul; Uldall, Peter Vilhelm; Ostergaard, John R.

    In: Disability and Rehabilitation, Vol. 34, 2012, p. 721-4.

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

  14. Published

    Screening for psychopathology in a national cohort of 8- to 15-year-old children with cerebral palsy. / Rackauskaite, Gija; Bilenberg, Niels; Bech, Bodil Hammer; Uldall, Peter; Østergaard, John Rosendahl.

    In: Research in Developmental Disabilities, Vol. 49-50, 16.12.2015, p. 171-180.

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

  15. 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

  16. 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

  17. Published

    Clinical and molecular phenotype of Aicardi-Goutieres syndrome. / Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Østergaard, John Rosendahl; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.

    In: American Journal of Human Genetics, Vol. 81, No. 4, 2007, p. 713-25.

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

  18. 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

  19. 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

  20. Published

    Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9]. / Skakkebæk, Anne; Gravholt, Claus Højbjerg; Rasmussen, Peter Mondrup; Bojesen, Anders; Jensen, Jens Søndergaard; Fedder, Jens; Laurberg, Peter; Hertz, Jens Michael; Østergaard, John Rosendahl; Pedersen, Anders Degn; Wallentin, Mikkel.

    In: NeuroImage: Clinical, Vol. 11, 26.02.2016, p. 52.

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

  21. 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

  22. Published

    Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. / Skakkebæk, Anne ; Gravholt, Claus Højbjerg; Rasmussen, Peter Mondrup; Bojesen, Anders; Jensen, Jens Søndergaard; Fedder, Jens; Laurberg, Peter; Hertz, Jens Michael; Østergaard, John Rosendahl; Pedersen, Anders Degn; Wallentin, Mikkel.

    In: NeuroImage: Clinical, Vol. 4, 2014, p. 1-9.

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

  23. Published

    The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome. / Skakkebæk, Anne; Moore, Philip J.; Pedersen, Anders Degn; Bojesen, Anders; Kristensen, Maria Krarup; Fedder, Jens; Laurberg, Peter; Hertz, Jens Michael; Østergaard, John Rosendahl; Wallentin, Mikkel; Gravholt, Claus Højbjerg.

    In: Brain and Behavior, Vol. 7, No. 3/ March 2017, e00645, 2017.

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

  24. Published

    Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. / Steenweg, Marjan E; Wolf, Nicole I; Schieving, Jolanda H; Fawzi Elsaid, Mahmoud; Friederich, Richard L; Ostergaard, John R; Barkhof, Frederik; Pouwels, Petra J W; van der Knaap, Marjo S.

    In: Archives of Neurology, Vol. 69, No. 1, 2012, p. 125-8.

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

  25. Published

    Medullær kompression ved Mb. Morquio-Brailsford. / Strange, P.; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 143, 1981, p. 888-9.

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

  26. Published

    Two cases of Salla disease in Danish children. / Sønderby Christensen, P; Kaad, P H; Østergaard, John Rosendahl.

    In: Acta Paediatrica, Vol. 92, No. 11, 2003, p. 1357-8.

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