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

  27. Published

    Osteogenesis imperfecta and complications due to pelvic narrowing: case and review. / Granild-Jensen, Jakob Bie; Mertz, Line Granild Bie; Rittig, Søren; Andersen, Gratien; Østergaard, John Rosendahl.

    In: Open Journal of Pediatrics, Vol. 1, 2011, p. 64-66.

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

  28. 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

  29. Published

    Difficulties in diagnosing Marfan syndrome using current FBN1 databases. / Groth, Kristian A; Gaustadnes, Mette; Thorsen, Kasper; Østergaard, John R; Jensen, Uffe Birk; Gravholt, Claus H; Andersen, Niels Holmark.

    In: Genetics in Medicine, 26.03.2015.

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

  30. Published

    Prevalence, incidence, and age at diagnosis in Marfan Syndrome. / Groth, Kristian A; Hove, Hanne; Kyhl, Kasper; Folkestad, Lars; Gaustadnes, Mette; Vejlstrup, Niels; Krag, Kirstine Stochholm; Østergaard, John R; Andersen, Niels H; Gravholt, Claus H.

    In: Orphanet Journal of Rare Diseases, Vol. 10, 2015, p. 153.

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

  31. Published

    Natural History of Vanishing White Matter. / Hamilton, Eline M C; van der Lei, Hannemieke D W; Vermeulen, Gerre; Gerver, Jan A M; Lourenço, Charles M; Naidu, Sakkubai; Mierzewska, Hanna; Gemke, Reinoud J B J; de Vet, Henrica C W; Uitdehaag, Bernard M J; Lissenberg-Witte, Birgit I; van der Knaap, Marjo S; VWM Research Group ; Østergaard, John Rosendahl (Member of author collaboration).

    In: Annals of Neurology, Vol. 84, No. 2, 08.2018, p. 274-288.

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

  32. 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

  33. Published

    Birth weight in offspring of women with epilepsy. / Hvas, Christian Lodberg; Henriksen, T B; Østergaard, J R.

    In: Epidemiologic Reviews, Vol. 22, No. 2, 2000, p. 275-82.

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

  34. Published

    Epilepsy and pregnancy : effect of antiepileptic drugs and lifestyle on birthweight. / Hvas, C L; Henriksen, T B; Ostergaard, J R; Dam, M.

    In: B J O G, Vol. 107, No. 7, 07.2000, p. 896-902.

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

  35. 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

  36. 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

  37. 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

  38. Published

    Epilepsi og orale manifestationer. / Jacobsen, Pernille Endrup; Haubek, Dorte; Østergaard, John Rosendahl.

    In: Tandlaegebladet, Vol. 2016/120, No. 1, 01.2016, p. 14-17.

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

  39. Published

    Prenatal exposure to antiepileptic drugs and dental agenesis. / Jacobsen, Pernille E; Henriksen, Tine B; Haubek, Dorte; Ostergaard, John R.

    In: PLOS ONE, Vol. 9, No. 1, 2014, p. e84420.

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

  40. Published

    Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics. / Jensen, Anne Skakkebæk; Bojesen, A; Kristensen, M. K.; Cohen, A; Hougaard, D M; Hertz, J M; Fedder, J; Laurberg, P; Wallentin, Mikkel; Ostergaard, J R; Pedersen, Anders Degn; Gravholt, Claus Højbjerg.

    In: Andrology, Vol. 2, No. 4, 28.05.2014, p. 632-640.

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

  41. Published

    Multisystem burden of neurofibromatosis 1 in Denmark : registry- and population-based rates of hospitalizations over the life span. / Kenborg, Line; Duun-Henriksen, Anne Katrine; Dalton, Susanne O.; Bidstrup, Pernille E.; Doser, Karoline; Rugbjerg, Kathrine; Pedersen, Camilla; Krøyer, Anja; Johansen, Christoffer; Andersen, Klaus Kaae; Østergaard, John R.; Hove, Hanne; Sørensen, Sven Asger; Riccardi, Vincent M.; Mulvihill, John J.; Winther, Jeanette F.

    In: Genetics in Medicine, Vol. 22, No. 6, 06.2020, p. 1069-1078.

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

  42. 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

  43. Published

    Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? / Khan, Nadia; Schinzel, Albert; Shuknecht, Bernhard; Baumann, Fabian; Østergaard, John R; Yonekawa, Yasuhiro.

    In: European Neurology, Vol. 51, No. 2, 2004, p. 72-7.

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

  44. Published

    Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1. / Kjaer, Trille Kristina; Andersen, Elisabeth Wreford; Olsen, Maja; Kenborg, Line; Bidstrup, Pernille Envold; Doser, Karoline; Hove, Hanne; Østergaard, John R.; Johansen, Christoffer; Sørensen, Sven Asger; Mulvihill, John J.; Winther, Jeanette F.; Dalton, Susanne Oksbjerg.

    In: European Journal of Human Genetics, Vol. 28, 08.2020, p. 1028-1033.

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

  45. Published

    Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. / Labrum, R W; Rajakulendran, S; Graves, T D; Eunson, L H; Bevan, R; Sweeney, M G; Hammans, S R; Tubridy, N; Britton, T; Carr, L J; Østergaard, John Rosendahl; Kennedy, C R; Al-Memar, A; Kullmann, D M; Schorge, S; Temple, K; Davis, M B; Hanna, M G.

    In: Journal of Medical Genetics, Vol. 46, No. 11, 2009, p. 786-91.

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

  46. Published

    Valproate-induced hyperammonemia in juvenile ceroid lipofuscinosis (Batten disease). / Larsen, Erling P; Ostergaard, John R.

    In: Seizure - European Journal of Epilepsy, Vol. 23, No. 6, 06.2014, p. 429-34.

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

  47. Published

    Fetal Heart Defects and Measures of Cerebral Size. / Lauridsen, Mette Høj; Uldbjerg, Niels; Petersen, Olav Bjørn; Vestergaard, Else Marie; Matthiesen, Niels Bjerregaard; Henriksen, Tine Brink; Østergaard, John Rosendahl; Hjortdal, Vibeke Elisabeth.

    In: The Journal of Pediatrics, Vol. 210, 2019, p. 146-153.

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

  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. Published

    The Efficacy and Safety of Long-term Norditropin® Treatment in Children with Prader-Willi Syndrome. / Meinhardt, U; Christiansen, J S; Farholt, Stense; Lämmer, C; Ostergaard, J R; Schmidt, F; Kappelgaard, A-M; Eiholzer, U.

    In: Hormone and Metabolic Research, 30.04.2013.

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

  54. 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

  55. Published

    Eating behavior, prenatal and postnatal growth in Angelman syndrome. / Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Østergaard, John Rosendahl.

    In: Research in Developmental Disabilities, Vol. 35, No. 11, 07.2014, p. 2681-2690.

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

  56. Published

    Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype correlations. / Mertz, Line Granild Bie; Thaulov, Per; Trillingsgaard, Anegen; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Østergaard, John Rosendahl.

    In: Research in Developmental Disabilities, Vol. 35, No. 7, 18.03.2014, p. 1742-1747.

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

  57. Published

    Neurologiske aspekter ved stammen. / Mertz, Line Bie; Østergaard, John R.

    In: Ugeskrift for Laeger, Vol. 168, No. 37, 2006, p. 3109-13.

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

  58. Published

    Neurologiske aspekter ved stammen. / Mertz, Line Bie; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 168, 2006, p. 3109-3113.

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

  59. Published

    Training in Compensatory Strategies Enhances Rapport in Interactions Involving People with Möbius Syndrome. / Michael, John; Bogart, Kathleen; Tylén, Kristian; Kruger, Joel; Bech, Morten; Østergaard, John Rosendahl; Fusaroli, Riccardo.

    In: Frontiers in Neurology, Vol. 6, No. October, 2015, p. 1-11.

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

  60. Published

    Effects of ergotamine on isolated human vessels. / Mikkelsen, E; Østergaard, John Rosendahl; Pedersen, S E; Pedersen, Ole Lederballe.

    In: Archives internationales de pharmacodynamie et de thérapie, Vol. 252, No. 2, 1981, p. 241-52.

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

  61. 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

  62. Published

    Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. / Moller, Hans Ulrik; Fledelius, Hans C; Milewicz, Dianna M; Regalado, Ellen S; Østergaard, John Rosendahl.

    In: British Journal of Ophthalmology, Vol. 96, No. 9, 2012, p. 1227-31.

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

  63. 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

  64. 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

  65. Published

    Narkolepsi hos børn - en overset diagnose. / Møller, Lene Ruge; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 167, No. 22, 2005, p. 2390-2393.

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

  66. Published

    Narkolepsi hos børn--en overset, diagnose. / Møller, Lene Ruge; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 167, No. 22, 2005, p. 2390-3.

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

  67. Published

    Narkolepsi hos en otteårig dreng. / Møller, Lene Ruge; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 167, No. 22, 2005, p. 2412-3.

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

  68. Published

    Treatment with venlafaxine in six cases of children with narcolepsy and with cataplexy and hypnagogic hallucinations. / Møller, Lene Ruge; Østergaard, John R.

    In: Journal of Child and Adolescent Psychopharmacology, Vol. 19, No. 2, 2009, p. 197-201.

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

  69. Published

    Spinal manifestations of CLN1 disease start during the early postnatal period. / Nelvagal, H R; Dearborn, J T; Ostergaard, J R; Sands, M S; Cooper, J D.

    In: Neuropathology and Applied Neurobiology, Vol. 47, No. 2, 02.2021.

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

  70. 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

  71. Published

    Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience. / Nielsen, Anders K; Østergaard, John Rosendahl.

    In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, Vol. 17, No. 3, 05.2013, p. 265-8.

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

  72. Published

    Paediatricians' attitudes to and management of functional seizures in children. / Nielsen, Eva Skovslund; Wichaidit, Bianca Taaning; Østergaard, John Rosendahl; Rask, Charlotte Ulrikka.

    In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, Vol. 22, No. 5, 09.2018, p. 774-781.

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

  73. Published

    Smoking during pregnancy and babbling abilities of the 8-month-old infant. / Obel, Carsten; Henriksen, Tine Brink; Hedegaard, Morten; Secher, Niels Jørgen; Østergaard, John Rosendahl.

    In: Paediatric and Perinatal Epidemiology (Print), Vol. 12, No. 1, 01.1998, p. 37-48.

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

  74. Published

    Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait. / Okkels, Henrik; Sunde, Lone; Lindorff-Larsen, Karen; Thorlacius-Ussing, Ole; Gandrup, Per; Lindebjerg, Jan; Teglbjærg, Peter Stubbe; Oestergaard, John R; Nielsen, Finn Cilius; Krarup, Henrik Bygum.

    In: International Journal of Colorectal Disease, Vol. 21, No. 8, 2006, p. 847-50.

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

  75. 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

  76. Published

    Hospital-Diagnosed Pertussis Infection in Children and Long-term Risk of Epilepsy. / Olsen, Morten; Thygesen, Sandra K; Østergaard, John R; Nielsen, Henrik; Henderson, Victor W; Ehrenstein, Vera; Nørgaard, Mette; Sørensen, Henrik Toft.

    In: JAMA: The Journal of the American Medical Association, Vol. 314, No. 17, 03.11.2015, p. 1844-9.

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

  77. 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

  78. 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

  79. 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

  80. 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

  81. 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

  82. 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

  83. 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

  84. 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

  85. 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

  86. 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

  87. 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

  88. 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

  89. 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

  90. 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

  91. 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

  92. 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

  93. 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

  94. 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

  95. 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

  96. 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

  97. 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

  98. 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

  99. 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

  100. 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

  101. 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

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