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Sidst opdateret: 16/11 2017
Publikationer 2006
Kontakt: Webmaster

Videnskabelige publikationer

  • Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brøndum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N.
    Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.
    Eur J Hum Genet. 2006 Apr;14(4):410-7

  • Bisgaard AM, Kirchhoff M, Tumer Z, Jepsen B, Brøndum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F.
    Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.
    Am J Med Genet A. 2006 Oct 15;140(20):2180-7

  • Brøndum-Nielsen K, Gerdes AM.
    Genetic counselling in monogenic cancer syndromes.
    Ugeskr Laeger. 2006 Jun 12;168(24):2350-4

  • Brøndum-Nielsen K,
    Cytogenetik og kromosomsygdomme, pp 73-93
    Sunde L, Gerdes AM: Cancergenetik, pp207-217
    Mental retardering, pp233-240
    Alle tre kapitler i Medicinsk Genetik, 2006, FADLs forlag, København, Eds: Nørby S Nielsen PKA. Danish

  • Brøndum-Nielsen K og Christian Graugaard. Kromosomsygdomme, intersex og seksualitet.
    I Krop, sygdom og seksualitet, 2006, Hans Reitzels forlag, Eds: Graugaard C, Møhl B, Hertoft H. Danish

  • Boonen SE, Grønskov K, Brøndum-Nielsen K. Fragile X chromosomes and fragile X syndrome.
    Ugeskr Laeger. 2006, Oct 23;168(43):3727-8. Danish

  • Ebbesen M, Jensen TG. Nanomedicine: Techniques, Potentials, and Ethical Implications.
    Journal of Biomedicine and Biotechnology, vol. 2006, Article ID 51516, 11 pages

  • Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L.
    Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
    J Med Genet. 2006, May;43(5):435-40

  • Gerdes AM, Brøndum-Nielsen K, Ejlertsen B.
    Press, ethics and genetic screening (Danish).
    Ugeskr Laeger. 2006, Oct 2;168(40):3448; author reply 3448. Danish

  • Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brøndum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS.
    Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
    Am J Hum Genet. 2006, May;78(5):878-83. Epub Mar 17

  • Güttler F, Guldberg P.
    Genotype/phenotype correlations in phenylalanine hydroxylase deficiency. In: PKU and BH4. Advantages in Phenylketonuria and Tetrahydrobiopterine Research (Blau N (ed.)) Part I. Phenylalanine hydroxylase deficiency. SPS Publishing, Heilbronn, Germany (311-320)

  • Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjaer KW, Hejtmancik JF, Rosenberg T.
    The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.
    Mol Vis. 2006, Sep 1;12:1033-9

  • Hertz JM, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller LB, Güttler F, Dupont E.
    Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
    Eur J Neurol. 2006, Apr;13(4):385-90

  • Hvas AM, Nexo E, Nielsen JB.
    Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU).
    J Inherit Metab Dis. 2006, Feb;29(1):47-53

  • Jensen TG.
    Genterapi. In: Medicinsk Genetik. pp 241-248. FADL's Forlag, Copenhagen. Eds.: Nørby S., and Nielsen PKA. Danish

  • Liu J, Jeppesen I, Nielsen K, Jensen TG.
    phic31 integrase induces chromosomal aberrations in primary human fibroblasts.
    Gene Ther. 2006, May 4

  • Matalon R, Michals-Matalon K, Bhatia G, Grechanina E, Novikov P, McDonald JD, Grady J, Tyring SK, Güttler F.
    Large neutral amino acids in the treatment of phenylketonuria (PKU).
    J Inherit Metab 2006, Dis 29: 732-738

  • Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK.
    Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.
    Hum Genet. 2006, Mar;119(1-2):179-84

  • Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njolstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK.
    A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
    Hum Genet. 2006, Jul 1

  • Moats R, Koch R, Moseley K, Güttler F, and Nelson Jr. M.
    Phenylketonuria and Brain Phenylalanine Content. In: PKU and BH4. Advantages in Phenylketonuria and Tetrahydrobiopterine Research (Blau N (ed)) Part I. Phenylalanine hydroxylase deficiency.
    SPS Publishing, Heilbronn, Germany, 2006,  (120-136)

  • Olsen JH, Hahnemann JM, Brøndum-Nielsen K.
    Genetic epidemiology and cancer.
    Ugeskr Laeger. 2006, Jun 12;168(24):2344-8. Danish

  • Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Møller LB.
    Evidence that translation reinitiation leads to a partially functional menkes protein containing two copper-binding sites.
    Am J Hum Genet. 2006 Aug;79(2):214-29

  • Sørensen AM, Shapiro AU, Lund SP, Brun B, Rosenberg T, Lykke J.
    Toxic encephalopathy and noise-induced hearing loss.
    Noise Health. 2006 Oct-Dec;8(33):139-46

  • Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S.
    Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
    Hum Mutat. 2006, Oct 16

  • Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Møller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P.
    Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
    J Neurol Neurosurg Psychiatry. 2006, Jan;77(1):18-23

  • Vuust J, Larsen LA, Grønskov K, Norgaard-Pedersen B, Brøndum-Nielsen K.
    Screening for fragile X syndrome: International experiences.
    Ugeskr Laeger. 2006, Oct 23;168(43):3704-9. Danish

  • Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brøndum-Nielsen K.
    Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
    Am J Med Genet A. 2006, Dec 15;140(24):2709-13

Populærvidenskabelig litteratur

  • Brøndum-Nielsen K. Palet af sygdomme. Lægehelse 2006, nr. 3 marts , p7-10. Danish

  • Brøndum-Nielsen K. Udviklingen inden for genetisk diagnostik. Lægehelse, 2006, nr. 6 s23-26. Danish

  • Brøndum-Nielsen K. Fragilt X- og Rett-syndrom. Lægehelse, 2006, Overblik, Nr. 12, december . Danish

  • Jensen TG. Genterapi. Gyldendals Online Leksikon © 2006. Gyldendalske Boghandel, Nordisk Forlag A/S og Erlandsen Media Publishing. Danish