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Sidst opdateret: 16/11 2017
Publikationer 2009
Kontakt: Webmaster

Videnskabelige publikationer

  • Ahring K, Be´ langer-Quintana A, Dokoupil K, Ozel HG, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M.
    Dietary management practices in phenylketonuria across European centres.
    Clinical Nutrition 2009, 28: 231-236

  • Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K.
    11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.
    Mol Cytogenet 2009, 2:6

  • Andersen MKG, Christoffersen NLB, Sander B, Edmund C, Larsen M, Grau T, Wissinger B,  Kohl S, Rosenberg T.
    Oligocone trichromacy: Clinical and molecular genetic investigations.
    IOVS 2009, 51:89-95

  • Beuscart R, McNair P, Brender J.
    Patient Safety Through Intelligent Procedures in Medication: The PSIP Project.
    Stud Health Technol Inform. 2009, 148:6-13

  • Beuscart R, McNair P, Darmoni SJ, Koutkia V, Maglaveras N, Beuscart-Zephir MC, Nohr C.
    Patient safety: detection and prevention of adverse drug events.
    Stud Health Technol Inform. 2009, 150:968-71

  • Brudzewsky D, Pedersen A, Claesson MH, Gad M, Kristensen NN, Lage K, Jensen T, Tommerup N, Larsen LA, Knudsen S, Tümer Z.
    Genome-wide gene expression profiling of SCID mice with T-cell mediated colitis.
    Scan J Immun 2009, 69:437-436

  • Gardner TW, Larsen M, Girach A, Zhi X, on behalf of the Protein Kinase C Diabetic Retinopathy Study (PKC-DRS2) Study Group.
    Diabetic macular oedema and visual loss: relationship to location, severity and duration.
    Acta Ophthalmol. 2009 Nov;87(7):709-13. Epub 2009 Oct 8.

  • Gronskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T.
    Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism.
    Invest Ophthalmol Vis Sci 2009, 50:1058-1064

  • Gylvin T, Ek J, Nolsoe R,  Albrechtsen A,  Andersen G, Bergholdt R, Brorsson C, Bang-Berthelsen CH, Hansen T, Karlsen AE, Billestrup N, Borch-Johnsen K, Jorgensen T, Pedersen O, Mandrup-Poulsen T, Nerup J, Pociot F.
    Functional SOCS1 polymorphisms are associated with variation in obesity in whites.
    Diab Obes Met 2009, 11: 196-203

  • Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, Rosenberg T.
    Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
    Invest Ophthalmol Vis Sci 2009, 50:3291-3303

  • Hilhorst-Hofstee Y*, Tümer Z*, Born P, Knijnenburg J, Hansson K, Yatawara V,  Stensbjerg J, Ullmann R, Arkesteijn G, Tommerup T, Larsen LA. * Shared first authorship
    Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.
    Am J Med Genet 2009, 149A:1830-1833

  • Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T.
    A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
    Br J Ophthalmol. 2009, 93:409-413

  • Holfort SK, Klemp K, Kofoed PK, Sander B, Larsen M
    Scotopic electrophysiology of the retina during transient hyperglycemia in type 2 diabetes.
    Invest Ophthalmol Vis Sci. 2010 May;51(5):2790-4. Epub 2009 Dec 30

  • Kessel L, Kofoed PK, Zubieta-Calleja G, Larsen M.
    Lens autofluorescence is not increased at high altitude.
    Acta Ophthalmol. 2010 Mar;88(2):235-40. Epub 2009 Mar 20.

  • Kofoed P, Munch IC, Larsen M.
    Profound retinal ischaemia after ranibizumab administration in an eye with ocular ischemic syndrome.
    Acta Ophthalmol. 2010 Nov;88(7):808-10.

  • Kofoed PK, Munch IC, Sander B, Holfort SK, Sillesen H, Jensen LP, Larsen M.
    Prolonged Multifocal Electroretinographic Implicit Times in the Ocular Ischemic Syndrome.
    Invest Ophthalmol Vis Sci. 2010 Apr;51(4):1806-10. Epub 2009 Nov 20

  • Kofoed PK, Sander B, Zubieta-Calleja G, Klemp K, Larsen M.
    Effect of high to low altitude adaptation on the multifocal electroretinogram.
    Invest Ophthalmol Vis Sci 2009, 50:3964-3969

  • Kofoed PK, Sander B, Zubieta-Calleja G, Larsen M.
    Effect of high to low altitude adaptation on retinal vessel diameters.
    Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3964-9. Epub 2009 Feb 21

  • Krøyer K, Christensen U, la Cour M, Larsen M.
    Metamorphopsia Assessment Before and After Vitrectomy for Macular Hole.
    Invest Ophthalmol Vis Sci. 2009, 50:5511-5515

  • Li YJ, Guggenheim JA, Bulusu A, Metlapally R, Abbott D, Malecaze F, Calvas P, Rosenberg T, Paget S, Creer RC, Kirov G, Owen MJ, Zhao B, White T, Mackey D, Young T.
    An International Collaborative Family-based Whole Genome Linkage Scan for High-grade myopia.
    Invest Ophthalmol Vis Sci. 2009 50:3116-3127

  • Lichota J, Skjørringe T, Thomsen LB, Moos T.
    Macromolecular drug transport into the brain using targeted therapy.
    J Neurochem. 2010 Apr;113(1):1-13. Epub 2009 Dec 14

  • Liu J*, Skjørringe T*, Gjetting T, Jensen TG. *Shared first authorship
    PhiC31 integrase induces a DNA damage response and chromosomal rearrangements in human adult fibroblasts.
    BMC Biotechnology 2009, 02:31

  • Madsen C, Grønskov K, Brøndum-Nielsen K, Jensen TG.
    Normal RNAi response in human fragile fibroblasts.
    BMC research notes 2009, 0,497916667

  • Metlapally R, Li Y-J, Tran-Viet K-N, Bulusu A, Czaja GR, Malecaze F, Calvas P, Guggenheim J, Mackey D, Rosenberg T, Paget S, Young TL.
    COL1A1, COL2A1 genes and myopia susceptibility: Evidence of association and suggestive linkage to the COL2A1 locus.
    Invest Ophthalmol Vis Sci 2009, 50:4080-4086

  • Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz, Rosenberg T, Hunt MD, Moore AT, Züchner S, Rickman CB, Young TL.
    Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficienceies.
    Invest Ophthalmol Vis Sci. 2009, 50:1552-1558

  • Milea D, Sander B, Wegener M, Jensen H, Kjer B, Jørgensen TM, Lund-Andersen H, Larsen M.
    Axonal loss occurs early in dominant optic atrophy.
    Acta Ophthalmol. 2010 May;88(3):342-6. Epub 2009 Mar 19

  • Møller LB, Mogensen M, Horn N.
    Molecular diagnosis of Menkes disease: Genotype-phenotype correlation.
    Biochiemie 2009, 91:1273-1277

  • Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V.
    Identification of novel variants in the Hepatocyte nuclear factor 1 alpha  gene in South indian patients with maturity onset diabetes of young.
    J Clin Endo Met 2009, 94:1959-1965

  • Riise R, D'haene B, De Baere E, Grønskov K, Brøndum-Nielsen K.
    Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203
    Acta Ophthalm Scand 2009: 87:923

  • Roos L, Brøndum Nielsen K, Tümer Z.
    Duplication Encompassing the SHOX Gene and the Downstream Evolutionarily Conserved Seqences.
    Am J Med Genet 2009, 149A:2900-2901

  • Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.
    A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
    J Med Genet 2009, 46:703-710

  • Skjørringe T, Gjetting T, Jensen TG.
    A modified protocol for efficient DNA encapsulation into pegylated immunoliposomes (PILs).
    Journal of Controlled Release 2009, 139:140-145

  • Tümer Z, Bach-Holm D.
    Axenfeld-Rieger Syndrome and Spectrum of PITX2 and FOXC1 mutations.
    Eur J Hum Genet 2009, 17:1527-1539

  • Tümer Z, Møller LB.
    Menkes disease.
    Eur J Hum Genet. 2010 May;18(5):511-8. Epub 2009 Nov 4

  • van Spronsen FJ, Ahring K, Gizewska M.
    PKU - what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and allied disorders.
    J Inher Met Dis 2009, 31 pp.673-679

  • Vinten M, la Cour M, Lund-Andersen H, Larsen M.
    Effect of acute postural variation on diabetic macular edema.
    Acta Ophthalmol. 2010 Mar;88(2):174-80. Epub 2009 Dec 13

  • Wong TY, Mwamburi M, Klein R, Larsen M, Flynn H, Hernandez-Medina M, Ranganathan G, Wirostko B, Pleil A, Mitchell P.
    Rates of progression in diabetic retinopathy during different time periods: a systematic review and meta-analysis.
    Diabetes Care 2009, 32:2307-13

  • Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller R, Ullmann R, He  J, Papadopoulos N, Tommerup N, Larsen LA.
    Characterization of a t(5;8)(q33;q22) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
    Eur J Hum Genet 2009, 17:1010-1018

  • Østergaard E, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Dunø M, Wibrand F.
    Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
    J Inherit Metab Dis. 2009 Jun 11. [Epub ahead of print]

Bøger

  1. Brøndum-Nielsen Karen: Forebyggelse og Genetisk rådgivning, kap 25,  I: Forebyggende sundhedsarbejde, eds: Kamper Jørgensen F, Almind G, Jensen , BB. Munksgaard, 2009

Formidling og populærvidenskab

  1. Brøndum-Nielsen Karen: Trisomi 21, den første kromosomafvigelse hos mennesket blev  opdaget for 50 år siden. Kronik Ugeskrift for læger, 14. september 2009
  2. Brøndum-Nielsen Karen: Fosterdiagnostik. Kronik Ugeskrift for læger, 7. december 2009
  3. Rønde Gitte: Knogleskørhed og knoglebrud ved Rett syndrom. Rett nyt nr. 2, 2009
  4. Rønde Gitte: Et klinisk overblik. Rett nyt nr. 2, 2009
  5. Rønde Gitte: D-vitamin status hos danske patienter med Rett syndrom. Rett nyt nr. 3, 2009
  6. Ravn Kirstine: Rett muse modeller. Rett nyt nr. 1, 2009