Illum NO Illum

MD, Specialist chief physician, medical director

20022019
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Research Output 2002 2019

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Journal article
Journal article

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

Arnaud, L., Saison, C., Helias, V., Lucien, N., Steschenko, D., Giarratana, M-C., Prehu, C., Foliguet, B., Montout, L., de Brevern, A. G., Francina, A., Ripoche, P., Fenneteau, O., Da Costa, L., Peyrard, T., Coghlan, G., Illum, N., Birgens, H., Tamary, H., Iolascon, A. & 3 others, Delaunay, J., Tchernia, G. & Cartron, J-P., 2010, In : American Journal of Human Genetics. 87, 5, p. 721-7

Research output: Contribution to journalJournal articleResearchpeer-review

Erythropoiesis
Mutation
Globins
Essential Genes
Missense Mutation
99 Downloads (Pure)
Open Access
File

beta-thalassaemia major hos børn og unge i Danmark

Translated title of the contribution: Beta-thalassemia major in children and adolescents in DenmarkJung, A., Main, K. M., Scheibel, E., Peitersen, B., Clausen, N., Erichsen, G., Schmiegelow, K. & Illum, N., 2. Dec 2002, In : Ugeskrift for Laeger. 164, 49, p. 5803-6 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

beta-Thalassemia
Denmark
Chelation Therapy
Delayed Puberty
Hydroxyurea

Bisfosfonatbehandling til børn og unge

Translated title of the contribution: Bisphosphonate treatment of children and adolescentsIllum, N. O., 27. Jan 2003, In : Ugeskrift for Laeger. 165, 5, p. 454-6 3 p.

Research output: Contribution to journalJournal articleResearchpeer-review

108 Downloads (Pure)

Creating a Disability Variable for Children with Disability Using the WHO ICF-CY Classification System

Illum, N. O. & Gradel, K. O., 2015, In : British Journal of Applied Science & Technology. 11, 1, p. 1-19

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
31 Downloads (Pure)

Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version

Illum, N. O., Bonderup, M. & Gradel, K. O., Jun 2016, In : Danish Medical Journal. 63, 6, A5238.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Parents
Spinal Dysraphism
Health
Cerebral Palsy
Health Services

Eponymous Jacobsen Syndrome: Mapping the Breakpoints of the Original Family Suggests an Association Between the Distal 1.1. Mb of Chromosome 21 and Osteoporosis in Down Syndrome

Tümer, Z., Henriksen, A. M., Bache, I., Larsen, L. A., Tommerup, N., Brixen, K., Kalschauer, V., Illum, N. & Rasmussen, K., 2005, In : American Journal of Medical Genetics. Part A. 135, 3, p. 339-341

Research output: Contribution to journalJournal articleResearchpeer-review

Intratekal baclofenbehandling ved svaer spastisk tetraplegi og dystoni hos børn og unge

Translated title of the contribution: Intrathecal baclofen in the treatment of severe spastic tetraplegia and dystonia in children and adolescentsIllum, N. O., Hansen, F. J., Fischer, C., Uldall, P. V. & Nielsen, O. A., 21. Apr 2003, In : Ugeskrift for Laeger. 165, 17, p. 1755-9 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Quadriplegia
Dantrolene
Social Adjustment
Young Adult
Denmark
56 Downloads (Pure)

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M. & Fagerberg, C. R., Feb 2019, In : European Journal of Medical Genetics. 62, 2, p. 129-136

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Macrostomia
Macroglossia
Language Development Disorders
Foramen Ovale
Exome

Laryngeal neurofibromatose hos et ni måneder gammelt barn

Translated title of the contribution: [Neurofibroma of the larynx in a nine month-old child]Højbak, A. F. M., Schollert, N. E., Jensen, E. M. P., Illum, N., Jepsen, S. & Godballe, C., 17. Oct 2011, In : Ugeskrift for Laeger. 173, 42, p. 2653-4 2 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Neurofibroma
Larynx
Airway Obstruction
Plexiform Neurofibroma

Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy

Jensen, L., Petersson, S. J., Illum, N. O., Laugaard-Jacobsen, H. C., Thelle, T., Jørgensen, L. H. & Schrøder, H. D., 1. Jun 2017, In : Journal of Musculoskeletal and Neuronal Interactions. 17, 2, p. 8-18

Research output: Contribution to journalJournal articleResearchpeer-review

Duchenne Muscular Dystrophy
Muscle Proteins
Fibroblast Growth Factor 2
Muscles
Glucocorticoids
81 Downloads (Pure)
Open Access
File
Parents
Disabled Children
Spinal Dysraphism
Cerebral Palsy
Psychometrics
89 Downloads (Pure)

Parents' Expressions of Concerns and Hopes for the Future and Their Concomitant Assessments of Disability in Their Children

Illum, N. O., Bonderup, M. & Gradel, K. O., 2018, In : Clinical Medicine Insights: Pediatrics. 12, p. 1-13

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Parents
Disabled Children
Spinal Dysraphism
Cerebral Palsy
Communication

Positive experience with intrathecal baclofen treatment in children with severe cerebral palsy

Overgård, T. M., Kjærsgaard-Hansen, L., Søe, M. & Illum, N. O., Jan 2015, In : Danish Medical Journal. 62, 1, p. A4999

Research output: Contribution to journalJournal articleResearchpeer-review

Cerebral Palsy
Parents
Denmark
Medical Records
Retrospective Studies

Properties of joined WHO ICF-CY body functions B codes and activity and participation D codes in childhood disability

Illum, N. O. & Gradel, K. O., 2015, In : International Journal of Current Research. 7, 12, p. 24257-24265

Research output: Contribution to journalJournal articleResearchpeer-review

Rhizotomibehandling af børn med svaer spastisk cerebral parese

Translated title of the contribution: Rhizotomy for children with severe spastic cerebral palsyIllum, N. O., Torp-Pedersen, L., Midholm, S., Selmar, P. E. & Simesen, K., 20. Feb 2006, In : Ugeskrift for Laeger. 168, 8, p. 785-9 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Rhizotomy
Cerebral Palsy
Nerve Fibers

Spinal cord injury at birth: a hidden causative factor

Fenger-Gron, J., Kock, K., Nielsen, R. G., Leth, P. M. & Illum, N., 1. Jun 2008, In : Acta Paediatrica. 97, 6, p. 824-826 3 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Delayed Diagnosis
Malpractice
Fetus

Symptoms and time to diagnosis in children with brain tumours

Klitbo, D. M., Nielsen, R., Illum, N. O., Wehner, P. S. & Carlsen, N. B., 2011, In : Danish Medical Bulletin (Online). 58, 7, p. A4285

Research output: Contribution to journalJournal articleResearchpeer-review

Neoplasms

The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable

Illum, N. O. & Gradel, K. O., 6. May 2014, In : Acta Paediatrica. 103, 8, p. 879–885

Research output: Contribution to journalJournal articleResearchpeer-review

Parents
Scandinavian and Nordic Countries
Spinal Dysraphism
Disabled Children
Cerebral Palsy