John Rosendahl Østergaard

  1. Journal article › Research › Peer-reviewed
  2. Published

    Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). / Østergaard, John Rosendahl; Rasmussen, Torsten Bloch; Mølgaard, Henning.

    In: Neurology, Vol. 76, 05.04.2011, p. 1245-1251.

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

  3. Published

    Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). / Nielsen, Anders K; Drack, Arlene V; Ostergaard, John R.

    In: Ophthalmic Genetics, Vol. 36, No. 1, 03.2015, p. 39-42.

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

  4. Published

    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. / Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M A; Gornall, Hannah L; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M; Bahi-Buisson, Nadia; Bailey, Kathryn M; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward M; Bloom, Miriam; Burlina, Alberto B; Carpanelli, Maria Luisa; Carvalho, Daniel R; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E; Chitayat, David A; Collins, Abigail E; Sierra Corcoles, Concepcion; Cordeiro, Nuno J V; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C; D'Arrigo, Stefano; De Goede, Christian G E L; De Laet, Corinne; De Waele, Liesbeth M H; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C; Fazzi, Elisa; Ferrie, Colin D; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D; Kirk, Edwin P; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J; Lin, Jean-Pierre S-M; Linnankivi, Tarja; Mackay, Mark T; Marom, Daphna R; Marques Lourenço, Charles; McKee, Shane A; Moroni, Isabella; Morton, Jenny E V; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J; Olivieri, Ivana; Ostergaard, John R; Pérez-Dueñas, Belén; Prendiville, Julie S; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A; Sinha, Gyanranjan P; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I; Straussberg, Rachel; Swoboda, Kathryn J; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y; te Water Naude, Johann; Wee Teik, Keng; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B; Wassmer, Evangeline; Webb, Hannah J; Whitehouse, William P; Whitney, Robyn N; Zaki, Maha S; Zuberi, Sameer M; Livingston, John H; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I.

    In: American Journal of Medical Genetics. Part A, Vol. 167A, No. 2, 02.2015, p. 296-312.

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

  5. Published

    Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations. / Agergaard, Peter; Olesen, Charlotte; Ostergaard, John Rosendahl; Christiansen, Michael; Sørensen, Karina Meden.

    In: American Journal of Medical Genetics. Part A, Vol. 158A, 02.02.2012, p. 509-13.

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

  6. 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

  7. Published

    Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1 : A nationwide study. / Doser, Karoline; Andersen, Elisabeth Wreford; Kenborg, Line; Dalton, Susanne Oksbjerg; Jepsen, Jens Richardt Møllegaard; Krøyer, Anja; Østergaard, John; Hove, Hanne; Sørensen, Sven Asger; Johansen, Christoffer; Mulvihill, John; Winther, Jeanette Falck; Bidstrup, Pernille Envold.

    In: American Journal of Medical Genetics. Part A, Vol. 182, No. 7, 07.2020, p. 1704-1715.

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

  8. 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

  9. Published

    Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms. / Østergaard, John Rosendahl; Oxlund, H.

    In: Journal of Neurosurgery, Vol. 67, No. 5, 1987, p. 690-6.

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

  10. Published

    Congenital Heart Defects and Indices of Fetal Cerebral Growth in a Nationwide Cohort of 924,422 Liveborn Infants. / Matthiesen, Niels B; Henriksen, Tine B; Gaynor, James W; Agergaard, Peter; Bach, Cathrine C; Hjortdal, Vibeke; Ostergaard, John R.

    In: Circulation, Vol. 133, No. 6, 2016, p. 566-75.

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

  11. Published

    Congenital Heart Defects and Indices of Placental and Fetal Growth in a Nationwide Study of 924 422 Liveborn Infants. / Matthiesen, Niels B; Henriksen, Tine B; Agergaard, Peter; Gaynor, J William; Bach, Cathrine C; Hjortdal, Vibeke E; Østergaard, John R.

    In: Circulation, Vol. 134, No. 20, 15.11.2016, p. 1546-1556.

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

  12. Published

    Congenital Heart Defects and Measures of Fetal Growth in Newborns with Down Syndrome or 22q11.2 Deletion Syndrome. / Matthiesen, Niels B; Agergaard, Peter; Henriksen, Tine B; Bach, Cathrine C; Gaynor, J William; Hjortdal, Vibeke; Østergaard, John R.

    In: The Journal of Pediatrics, Vol. 175, 28.05.2016, p. 116-122.

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

  13. Published

    Congenital Heart Defects and Risk of Epilepsy : A Population-Based Cohort Study. / Leisner, Michelle Z; Madsen, Nicolas L; Ostergaard, John R; Woo, Jessica G; Marino, Bradley S; Olsen, Morten S.

    In: Circulation, Vol. 134, No. 21, 22.11.2016, p. 1689-1691.

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

  14. Published

    Congenital Heart Defects and the Risk of Spontaneous Preterm Birth. / Matthiesen, Niels B.; Østergaard, John R.; Hjortdal, Vibeke E.; Henriksen, Tine B.

    In: Journal of Pediatrics, Vol. 229, 02.2021, p. 168-174.e5.

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

  15. 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

  16. 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

  17. 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

  18. Published

    De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. / Milewicz, Dianna M; Østergaard, John R; Ala-Kokko, Leena M; Khan, Nadia; Grange, Dorothy K; Mendoza-Londono, Roberto; Bradley, Timothy J; Olney, Ann Haskins; Adès, Lesley; Maher, Joseph F; Guo, Dongchuan; Buja, L Maximilian; Kim, Dong; Hyland, James C; Regalado, Ellen S.

    In: American Journal of Medical Genetics. Part A, Vol. 152A, No. 10, 01.10.2010, p. 2437-43.

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

  19. Published

    Death in children with febrile seizures: a population-based cohort study. / Vestergaard, Mogens; Pedersen, Marianne Giørtz; Østergaard, John Rosendahl; Pedersen, Carsten Bøcker; Olsen, Jørn; Christensen, Jakob.

    In: Lancet, Vol. 372, No. 9637, 2008, p. 457-63.

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

  20. Published

    Deficiency of reticular fibers in cerebral arteries. On the etiology of saccular aneurysms in childhood. / Østergaard, John Rosendahl; Reske-Nielsen, E; Buhl, J.

    In: British Journal of Neurosurgery, Vol. 3, No. 1, 1989, p. 113-5.

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

  21. Published

    Den objektive strukturerede kliniske eksamen som led i speciallaegeuddannelsen i paediatri. De første danske erfaringer. / Balslev, T; Ostergaard, J R; Nødgaard, H; Hasle, H; Schiøtz, P O.

    In: Ugeskrift for Laeger, Vol. 162, No. 10, 06.03.2000, p. 1383-7.

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

  22. Published

    Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples. / Sørensen, Karina; Agergaard, Peter Juul; Olesen, Charlotte; Andersen, Paal S; Larsen, Lars A; Østergaard, John Rosendahl; Schouten, Jan P; Christiansen, Michael.

    In: The Journal of molecular diagnostics : JMD, Vol. 12, No. 2, 01.03.2010, p. 147-51.

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

  23. Published

    Development Enamel Defects in Children Prenatally Exposed to Anti-Epileptic Drugs. / Jacobsen, Pernille Endrup; Henriksen, Tine Brink; Haubek, Dorte; Østergaard, John Rosendahl.

    In: P L o S One, Vol. 8, No. 3, 01.03.2013, p. e58213.

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

  24. 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

  25. Published

    Developmental Enamel Defects in Children Prenatally Exposed to Anti-Epileptic Drugs. / Jacobsen, Pernille E.; Henriksen, Tine B.; Haubek, Dorte; Østergaard, John R.

    In: PLOS ONE, Vol. 8, No. 3, e58213, 08.03.2013.

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

  26. Published

    Developmental enamel defects in children born preterm : a systematic review. / Jacobsen, Pernille E; Haubek, Dorte; Henriksen, Tine B; Østergaard, John R; Poulsen, Sven.

    In: European Journal of Oral Sciences Online, Vol. 122, No. 1, 02.2014, p. 7-14.

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