John Rosendahl Østergaard

  1. Journal article
  2. Published

    Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. / Agergaard, Peter; Hebert, Anders; Sørensen, Karina M; Østergaard, John R; Olesen, Charlotte.

    In: European Journal of Medical Genetics, Vol. 54, No. 1, 2011, p. 3-8.

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

  3. 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

  4. Published

    The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study. / Agergaard, Peter; Olesen, Charlotte; Ostergaard, John Rosendahl; Christiansen, Michael; Sørensen, Karina Meden.

    In: American Journal of Medical Genetics. Part A, Vol. 158A, 2012, p. 498-508.

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

  5. Published

    Ektopisk pancreasvæv er en sjælden årsag til blødningog tarminvagination. / Andersen, Mette Winther; Østergaard, John R; Tøtterup, Anders; Jespersen, Marie Louise; Grønbæk, Henning.

    In: Ugeskrift for Laeger, Vol. 177, No. 3, 12.01.2015, p. V09140486.

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

  6. Published

    Benign paroksystisk torticollis. Recidiverende tvangsholdning af hovedet hos spoed- og småbørn. / Balslev, T; Flarup, M; Ostergaard, J R; Haslam, R H.

    In: Ugeskrift for Laeger, Vol. 160, No. 37, 07.09.1998, p. 5365-7.

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

  7. 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

  8. 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

  9. 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

  10. Published

    Lejringsbetinget plagiocefali. / Christensen, Leif; Østergaard, John R; Nørholt, Sven Erik.

    In: Ugeskrift for Laeger, Vol. 165, No. 1, 2002, p. 46-50.

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

  11. Published

    Sallasygdom. / Christensen, Pia Sønderby; Kaad, Per-Henrik; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 167, No. 21, 2005, p. 2270-1.

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

  12. Published

    Sallasygdom hos danske børn. De to tilfaelde af Sallasygdom hos danske born. / Christensen, Pia Sønderby; Kaad, Per-Henrik; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 167, No. 21, 2005, p. 2292-3.

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

  13. 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

  14. 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

  15. 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

  16. Published

    Educational delay and attainment in persons with neurofibromatosis 1 in Denmark. / 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, 2019, p. 857-868.

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

  17. Published

    Post-varicella angiopathy : a series of 4 patients with focus on virologic and neuroimaging findings. / Dunkhase-Heinl, Ulrike; Stausbøl-Grøn, Brian; Christensen, Johnny; Ostergaard, John R.

    In: Pediatric Neurology, Vol. 50, No. 6, 06.2014, p. 581-5.

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

  18. 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

  19. Published

    Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum. / Ejerskov, Cecilie; Gaustadnes, Mette; Ostergaard, John R.; Krogh, Klaus; Thorsen, Kasper; Borglum, Anders D.; Haagerup, Annette.

    In: Scientific Reports, Vol. 11, 9179, 12.2021.

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

  20. Published

    Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1. / Ejerskov, Cecilie; Krogh, Klaus; Ostergaard, John R; Jønsson, Iben; Haagerup, Annette.

    In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 66, No. 6, 06.2018, p. 872-875.

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

  21. Published

    Teenagers and young adults with neurofibromatosis type 1 are more likely to experience loneliness than siblings without the illness. / Ejerskov, Cecilie; Lasgaard, Mathias; Østergaard, John R.

    In: Acta paediatrica (Oslo, Norway : 1992), Vol. 104, No. 6, 06.2015, p. 604-9.

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

  22. Published

    Trisomy 14 mosaicism : clinical and cytogenetic findings in an adult. / Fagerberg, Christina; Eriksen, Finn B; Thormann, Jens; Østergaard, John R.

    In: Clinical Dysmorphology, Vol. 21, No. 1, 2012, p. 45-7.

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

  23. Published

    Normal Cortisol Response to High-Dose Synacthen and Insulin Tolerance Test in Children and Adults with Prader-Willi Syndrome. / Farholt, Stense; Sode-Carlsen, Rasmus; Christiansen, Jens Sandahl; Østergaard, John Rosendahl; Høybye, Charlotte.

    In: Journal of Clinical Endocrinology and Metabolism, Vol. 96, No. 1, 2011, p. E173-80.

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

  24. Published

    Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR-pQCT. / Folkestad, Lars; Groth, Kristian A; Shanbhogue, Vikram; Hove, Hanne; Kyhl, Kasper; Østergaard, John R; Jørgensen, Niklas Rye; Andersen, Niels H; Gravholt, Claus H.

    In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, Vol. 35, No. 12, 12.2020, p. 2335-2344.

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

  25. 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

  26. Published

    Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. / Granild Bie Mertz, Line; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Østergaard, John R.

    In: Research in Developmental Disabilities, Vol. 56, 09.2016, p. 177-82.

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

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