John Rosendahl Østergaard

  1. 2021
  2. 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

  3. 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

  4. Published

    Reply. / Matthiesen, Niels B; Østergaard, John R; Hjortdal, Vibeke E; Henriksen, Tine B.

    In: The Journal of Pediatrics, Vol. 230, 03.2021, p. 273-274.

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

  5. 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

  6. 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

  7. 2020
  8. 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

  9. 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

  10. 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

  11. 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

  12. Published

    NF1 mutational spectrum and NF1 severity in 283 unrelated single-center patients with neurofibromatosis type 1. / Ejerskov, Cecilie; Gaustadnes, Mette; Østergaard, John Rosendahl; Thorsen, Kasper; Haagerup, Annette.

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

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  13. Published

    NF1 mutational spectrum and NF1 severity in 283 unrelated single-center patients with neurofibromatosis type 1. / Ejerskov, Cecilie; Gaustadnes, Mette; Østergaard, John Rosendahl; Thorsen, Kasper; Haagerup, Annette.

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

    Research output: Contribution to conferencePosterResearchpeer-review

  14. 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

  15. 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/debateResearchpeer-review

  16. 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

  17. 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

  18. 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

  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. 2019
  21. 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/debateResearchpeer-review

  22. 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

  23. 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

  24. 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

  25. 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

  26. 2018
  27. 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

  28. 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

  29. 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

  30. 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

  31. 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/debateResearchpeer-review

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. Published

    Respiratory distress syndrome in preterm infants and risk of epilepsy in a Danish cohort. / Thygesen, Sandra Kruchov; Olsen, Morten Smærup; Pedersen, Lars; Henderson, Victor W; Østergaard, John Rosendahl; Sørensen, Henrik Toft.

    In: European Journal of Epidemiology, Vol. 33, No. 3, 2018.

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

  39. 2017
  40. 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

  41. 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

  42. 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

  43. Published

    Fetal Heart Defects and Disrupted Cerebral Growth: A Cohort Study in 63,201 Fetuses. / Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie; Uldbjerg, Niels; Henriksen, Tine Brink; Østergaard, John Rosendahl; Matthiesen, Niels Bjerregård; Hjortdal, Vibeke E.

    2017. Abstract from 2nd jENS - Congress of joint European Neonatal Societies, Venedig, Italy.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  44. 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

  45. 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

  46. 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

  47. 2016
  48. Published

    Constipation in adults with NF1. / Ejerskov, Cecilie; Krogh, Klaus; Østergaard, John Rosendahl; Haagerup, Annette.

    2016. Poster session presented at 17th European Neurofibromatosis Meeting, Padova, Italy.

    Research output: Contribution to conferencePosterResearchpeer-review

  49. Published

    Functional gastrointestinal disorders among patients with neurofibromatosis type 1. / Ejerskov, Cecilie; Krogh, Klaus; Østergaard, John Rosendahl; Haagerup, Annette.

    2016. Abstract from 17th European NF Meeting, Padova, Italy, Padova, Italy.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  50. 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

  51. 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

  52. 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

  53. 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

  54. 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

  55. 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

  56. Published

    Participation in lessons of physical education: a national survey between 8-to 15-year old children with CP in Denmark. / Rackauskaite, Gija; Østergaard, John Rosendahl; Uldall, Peter.

    In: Developmental Medicine and Child Neurology, Vol. 58, No. S6, 10.2016.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  57. 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

  58. Published

    Respiratory distress syndrome in moderately late and late preterm infants and risk of cerebral palsy : a population-based cohort study. / Thygesen, Sandra Kruchov; Olsen, Morten; Østergaard, John R; Sørensen, Henrik Toft.

    In: BMJ Open, Vol. 6, No. 10, 11.10.2016, p. e011643.

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

  59. Published

    Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation. / Wallentin, Mikkel; Skakkebæk, Anne; Bojesen, Anders; Fedder, Jens; Peter, Laurberg; Østergaard, John Rosendahl; Hertz, Jens Michael; Pedersen, Anders Degn; Gravholt, Claus Højbjerg.

    In: NeuroImage: Clinical, Vol. 11, 2016, p. 239-251.

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

  60. Published

    Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights. / Østergaard, John Rosendahl.

    In: Degenerative Neurological and Neuromuscular Disease , 01.08.2016, p. 73-83.

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

  61. Published

    Organiseringen af den sundhedsfaglige indsats for sjældne sygdomme i Danmark. / Østergaard, John Rosendahl.

    In: Tandlaegebladet, Vol. 120, No. 8, 2016, p. 694-696.

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

  62. 2015
  63. 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

  64. 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

  65. 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

  66. 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

  67. 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

  68. 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

  69. 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

  70. Published

    CONGENITAL HEART DISEASE AND INDICES OF FETAL CEREBRAL GROWTH IN A NATIONWIDE COHORT OF 931,174 LIVEBORN INFANTS. / Matthiesen, Niels Bjerregård; Henriksen, Tine Brink; Gaynor, J William; Agergaard, Peter; Bach, Cathrine Carlsen; Hjortdal, Vibeke E.; Østergaard, John Rosendahl.

    2015. Abstract from 1st Congress of joint European Neonatal Societies, Budapest, Hungary.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  71. Published

    CONGENITAL HEART DISEASE, PLACENTAL ANOMALIES AND INDICES OF FETAL GROWTH IN A NATIONWIDE COHORT OF 931,174 LIVEBORN INFANTS. / Matthiesen, Niels Bjerregård; Henriksen, Tine Brink; Gaynor, J William; Agergaard, Peter; Bach, Cathrine Carlsen; Hjortdal, Vibeke E.; Østergaard, John Rosendahl.

    2015. Abstract from 1st Congress of joint European Neonatal Societies, Budapest, Hungary.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  72. Published

    Congenital heart disease and indices of fetal growth in a nationwide cohort of 931,174 liveborn infants. / Matthiesen, Niels Bjerregård; Henriksen, Tine Brink; Gaynor, J William; Agergaard, Peter; Bach, Cathrine Carlsen; Hjortdal, Vibeke E.; Østergaard, John Rosendahl.

    2015. Poster session presented at Society for Epidemiologic Research, Denver, Colorado, United States.

    Research output: Contribution to conferencePosterResearchpeer-review

  73. Published

    Congenital heart disease and indices of fetal growth in a nationwide cohort of children with Down syndrome. / Matthiesen, Niels Bjerregård; Agergaard, Peter; Henriksen, Tine Brink; Gaynor, J William; Bach, Cathrine Carlsen; Hjortdal, Vibeke E.; Østergaard, John Rosendahl.

    2015. Poster session presented at Society for Epidemiologic Research, Denver, Colorado, United States.

    Research output: Contribution to conferencePosterResearchpeer-review

  74. Published

    Congenital heart disease and indices of feto-placental growth in a nationwide cohort of 931,174 liveborn infants. / Matthiesen, Niels Bjerregård; Henriksen, Tine Brink; Gaynor, J William; Agergaard, Peter; Bach, Cathrine Carlsen; Hjortdal, Vibeke E.; Østergaard, John Rosendahl.

    2015. Poster session presented at Society for Epidemiologic Research, Denver, Colorado, United States.

    Research output: Contribution to conferencePosterResearchpeer-review

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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

  80. 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; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John Rosendahl; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P.M.; Zhang, Xuiqing; Jensen, Uffe Birk.

    2015. Poster session presented at ESHG 2015, Glasgow, United Kingdom.

    Research output: Contribution to conferencePosterResearch

  81. 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

  82. 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

  83. 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

  84. Published

    Diagnostic practice of psychogenic nonepileptic seizures (PNES) in the pediatric setting. / Wichaidit, Bianca T; Østergaard, John R; Rask, Charlotte U.

    In: Epilepsia, Vol. 56, No. 1, 01.2015, p. 58-65.

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

  85. 2014
  86. 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

  87. Published

    Loneliness among youth with neurofibromatosis type 1. / Ejerskov, Cecilie; Lasgaard, Mathias; Østergaard, John Rosendahl.

    2014.

    Research output: Contribution to conferencePosterResearchpeer-review

  88. Published

    Loneliness among youth with neurofibromatosis type 1. / Ejerskov, Cecilie; Lasgaard, Mathias Kamp; Østergaard, John Rosendahl.

    2014. Abstract from 16th European NF Meeting, Barcelona, Spain.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  89. 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

  90. Published

    Evidence for an association between prematurity and enamel defects in permanent teeth is still relatively sparse. / Jacobsen, Pernille Endrup; Haubek, Dorte; Henriksen, Tine Brink; Ostergaard, John; Poulsen, Sven.

    In: European Journal of Oral Sciences Online, Vol. 122, No. 5, 2014, p. 361.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearch

  91. 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

  92. 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

  93. 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

  94. Published
  95. Published

    Congenital Heart Disease and Microcephaly at Birth: A Population Based Study of 2467 Children. / Mathiessen, Neils B; Henriksen, Tine Brink; Agergaard, Peter; Hjortdal, Vibeke E.; Gaynor, JW; Østergaard, John Rosendahl.

    2014. Abstract from European Congress of Epidemiology (EUROEPI) 2013, Aarhus, Denmark.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  96. 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

  97. 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

  98. 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

  99. 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

  100. Published

    A Possible Coexistence between Restless Leg Syndrom and Attention Deficit Hyperactivity Disorder. / Tilma, Jørgen; Thomsen, Per Hove; Ostergaard, John R.

    In: Ugeskrift for Laeger, Vol. 176, No. 4, 17.02.2014.

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

  101. Published

    Mulig sammenhæng mellem restless legs syndrome og ADHD. / Tilma, Jørgen; Thomsen, Per Hove; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, 17.02.2014, p. 349-353.

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

  102. Published

    Diagnosing Functional Seizures in Children and Adolescent. / Wichaidit, Bianca Taaning; Rask, Charlotte Ulrikka; Ostergaard, John R.

    In: Ugeskrift for Laeger, Vol. 176, No. 18, 28.04.2014.

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

  103. Published

    Diagnostik af funktionelle anfald hos børn. / Wichaidit, Bianca Taaning; Rask, Charlotte Ulrikka; Østergaard, John Rosendahl.

    In: Ugeskrift for Laeger, Vol. 176, V10130613, 2014.

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

  104. 2013
  105. Published

    Ensomhed blandt unge med neurofibromatose type 1. / Ejerskov, Cecilie; Lasgaard, Mathias Kamp; Østergaard, John Rosendahl.

    2013. Abstract from Dansk Ungdomsmedicinsk Konference, Aarhus, Danmark., .

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  106. Published

    Ensomhed blandt unge med neurofibromatose type 1. / Ejerskov, Cecilie ; Lasgaard, Mathias; Østergaard, John Rosendahl.

    2013. Poster session presented at Dansk Ungdomsmedicinsk Konference, Aarhus, Denmark.

    Research output: Contribution to conferencePosterResearchpeer-review

  107. 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

  108. 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

  109. Published

    Patterns of Prenatal. / Matthiesen, Niels B; Agergaard, Peter; Hjortdal, Vibeke E.; Østergaard, John Rosendahl.

    2013. Abstract from 6th World Congress of Paediatric Cardiology and Cardiac Surgery, Cape Town, South Africa.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

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