John Rosendahl Østergaard

  1. 2018
  2. 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

  3. 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

  4. 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

  5. Published

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

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

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

  6. Published

    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

  7. 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

  8. 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

  9. Published

    NF1 and the gastrointestinal canal: A high prevalence of gastrointestinal symptoms correlated to constipation. / Ejerskov, Cecilie; Krogh, Klaus (Member of author collaboration); Børglum, Anders (Member of author collaboration); Østergaard, John Rosendahl (Member of author collaboration); Haagerup, Annette (Member of author collaboration).

    2018.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  10. Published

    NF1 and the gastrointestinal canal: A high prevalence of gastrointestinal symptoms correlated to constipation. / Ejerskov, Cecilie; Krogh, Klaus (Member of author collaboration); Børglum, Anders (Member of author collaboration); Østergaard, John Rosendahl (Member of author collaboration); Haagerup, Annette (Member of author collaboration).

    2018. Poster session presented at 18th European Neurofibromatosis Meeting, Paris, France.

    Research output: Contribution to conferencePosterResearchpeer-review

  11. Published

    Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391]. / Møller, L B; Schönewolf-Greulich, B; Rosengren, T; Larsen, L J; Ostergaard, J R; Sommerlund, M; Ostenfeldt, C; Stausbøl-Grøn, B; Linnet, K M; Gregersen, P A; Jensen, U B.

    In: Molecular Genetics and Metabolism, Vol. 125, No. 4, 12.2018, p. 361-361.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  12. 2019
  13. 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

  14. 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

  15. Published

    Medical aspects of juvenile neuronal ceroid lipofuscinosis. / Kohlschütter, Alfried; Cooper, Jonathan D. ; Mole, Sara E. ; Østergaard, John Rosendahl; Schulz, Angela.

    Juvenile Neuronal Ceroid Lipofuscinosis: childhood dementia and education. ed. / Stephen von Tetzchner; Bengt Elmerskog; Anne-Grethe Tøssebro; Svein Rokne. Melhus : Snøfugl Forlag, 2019. p. 45-62.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  16. Published

    Correction : Educational delay and attainment in persons with neurofibromatosis 1 in Denmark (European Journal of Human Genetics, (2019), 10.1038/s41431-019-0359-8). / 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, No. 6, 06.2019, p. 994-996.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  17. Published

    Do individuals with Angelman syndrome have a maladaptive behavior? / Ostergaard, John R.

    In: American Journal of Medical Genetics. Part A, Vol. 179, No. 11, 11.2019, p. 2317-2318.

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

  18. 2020
  19. Published

    Cardiac pathology in neuronal ceroid lipofuscinoses (NCL) : More than a mere co-morbidity. / Rietdorf, Katja; Coode, Emily E; Schulz, Angela; Wibbeler, Eva; Bootman, Martin D; Ostergaard, John R.

    In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1866, No. 9, 165643, 2020.

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

  20. 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

  21. 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

  22. Published

    Limited Clinical Application and Concerns of Bias in Long-term Risk of Epilepsy, Psychiatric Disorders, and Mortality Following Febrile Seizures. / Granild-Jensen, Jakob Bie; Matthiesen, Niels Bjerregaard; Østergaard, John R.

    In: JAMA Pediatrics, Vol. 174, No. 7, 07.2020, p. 729-730.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  23. 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

  24. 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

  25. 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

  26. 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

  27. Published

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

    2020. Poster session presented at 20th European NF Meeting, Rotterdam, Netherlands.

    Research output: Contribution to conferencePosterResearchpeer-review

  28. Published

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

    2020. Abstract from 20th European NF Meeting, Rotterdam, Netherlands.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

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