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Sidst opdateret: 16/11 2017
Publikationer 2004
Kontakt: Webmaster

Videnskabelige publikationer

  • Abdallah BM, Jensen CH, Gutierrez G, Leslie RG, Jensen TG & Kassem M.
    Regulation of human skeletal stem cells differentiation by Dlk1/Pref-1.
    J. Bone Miner. Res. 2004; 19(5): 841-52

  • Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, FitzPatrick DR, Grace E, Hansmann I, Hulten M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, Van Der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N.
    An excess of chromosome 1 breakpoints in male infertility.
    Eur J Hum Genet. 2004; 12(12): 993-1000

  • Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brondum-Nielsen K, Tumer Z.
    Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
    Am J Med Genet A. 2004; 132A(3):324-328

  • Borm B, Moller LB, Hausser I, Emeis M, Baerlocher K, Horn N, Rossi R.
    Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
    J Pediatr. 2004; 145(1): 119-21

  • Brondum-Nielsen K.
    Chromosome abnormalities and genetic counselling.
    Eur J Hum Genet. 2004; 12: 686

  • Bugge M, Delozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB.
    Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.
    Am J Med Genet A. 2004; 132A(3): 310-313

  • Cerone R, Schiffinno MC, Fantasia AR, Perfumo M, Moller LB, Blau N.
    Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
    Molecular Genetics and Metabolism 81(2):137-139, 2004

  • Diamant PM, Prause JU, Rosenberg T, Fledelius HC.
    Melanoma-associated retinopathy in a patient without a primary tumour.
    Ugeskr Laeger. 2004; 166(33): 2812-3

  • Fledelius HC, Gote H, Greisen G, Jensen H.
    Surveillance for retinopathy of prematurity in a Copenhagen high-risk sample 1999-2001. Has progress reached a plateau?
    Acta Ophthalmol Scand. 2004; 82(1):32-7

  • Fledelius HC, Fuchs HJ, Rosenberg T. Oculometric characteristics of extreme hypermetropia in two faroese families.
    Optom Vis Sci. 2004; 81(10): 762-8

  • Gerard-Blanluet M, Birk-Moller L, Caubel I, Gelot A, Billette de Villemeur T, Horn N. Early development of occipital horns in a classical Menkes patient.
    Am J Med Genet. 2004; 130A(2): 211-3

  • Gronskov K, Hjalgrim H, Nielsen IM, Brondum-Nielsen K. Screening of the ARX gene in 682 retarded males. Eur J Hum Genet. 2004; 12(9): 701-5

  • Gronskov K, Larsen LA, Rendtorff ND, Parving A, Norgaard-Pedersen B, Brondum-Nielsen K. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
    Genet Test. 2004; 8(2): 181-4

  • Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children.
    Invest Ophthalmol Vis Sci. 2004; 45(5): 1316-20

  • Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications.
    Ophthalmology. 2004; 111(12): 2292-8

  • Jensen TG. Gene transfer into human epidermis as an experimental model for somatic gene therapy.
    Danish Medical Bulletin 2004; 51(2): 155-66

  • Jensen TG. Strategies for long term gene expression in the skin to treat metabolic disorders. Expert Opin Biol Ther 2004; 4(5): 677-82

  • Kjaergaard S. Congenital disorders of glycosylation type Ia and Ib.
    Danish Medical Bulletin 2004; 51 (4): 350-63

  • Lou HC, Rosa P, Pryds O, Karrebaek H, Lunding J, Cumming P, Gjedde A. ADHD: increased dopamine receptor availability linked to attention deficit and low neonatal cerebral blood flow.
    Dev Med Child Neurol. 2004; 46(3): 179-83

  • Man PY, Howell N, Mackey DA, Norby S, Rosenberg T, Turnbull DM, Chinnery PF. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
    J Med Genet. 2004; 41(4): e41

  • Matalon R, Koch R, Michals-Matalon K, Moseley K, Surendran S, Tyring S, Erlandsen H, Gamez A, Stevens RC, Romstad A, Moller LB, Guttler F. Biopterin responsive phenylalanine hydroxylase deficiency.
    Genet Med. 2004; 6(1): 27-32

  • Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Norremolle A, Hasholt L. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.
    Prenat Diagn. 2004; 24(5): 363-6

  • Ostergaard E, Pedersen VF, Skriver EB, Brondum-Nielsen K. Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.
    Am J Med Genet. 2004; 124A(1): 74-8

  • Poulsen L, Møller LB, Plunkett K, Belmont J, Tümer Z, Horn N. First Description of Germline Mosaicism in X-linked Menkes Disease.
    Genet Test. 2004; 8: 286-291

  • Rosenberg T. Ophthalmological Aspects. In Robinson PN, Godfrey M (eds). Marfan Syndrome: A primer for clinicians and scientists.
    Landes Bioscience, Kluwer Academic Series: Medical Intelligence Unit 2004: 35-44

  • Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
    Invest Ophthalmol Vis Sci. 2004; 45(12): 4256-62

  • Rosenberg T, Schwartz M. Ocular Albinism, X-Linked. In: GeneReviews at Gene Tests: Medical Genetics Information Resource
    [database Available at http://www.genetests.org/]. March 2004

  • Schollen E, Kjaergaard S, Martinsson T, Vuillaumier-Barrot S, Dunoe M, Keldermans L, Seta N, Matthijs G. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
    J Med Genet. 2004; 41(11):877-80

  • Schoumans J, Nielsen K, Jeppesen I, Anderlid BM, Blennow E, Brondum-Nielsen K, Nordenskjold M. A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
    Eur J Hum Genet. 2004; 12(6): 447-54

  • Serakinci S, Guldberg P, Burns J, Abdallah B, Schrødder H, Jensen T & Kassem M. Human Mesenchymal Stem Cells with High Telomerase Activity Spontaneously Acquire Genetic and Epigenetic Changes and a Tumorigenic Phenotype.
    Oncogene 2004; 23(29): 5095-8

  • Sjolie AK, Jensen H. Retinopathy of prematurity.
    Ugeskr Laeger. 2004; 166(48): 4345

  • Trier C, Vestergaard ME, Bolund L, Jensen TG & Jensen UB. Side population (sp) cells in human and mouse epidermis are not stem cells.
    Exp Cell Res 2004; 295(1): 79-90
  • Tumer Z, Horn N, Tonnesen T, Christodoulou J, Clarke JT, Sarkar B. Gene symbol: ATP7A. Disease: Menkes disease.
    Hum Genet. 2004; 114(6): 606

  • Tümer Z, Horn N. Menkes Disease.
    In ‘Neurocutaneous diseases’ ed Roach ES, Miller VS
    Cambridge University Press, Chap 28, 222-233, 2004

  • Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
    Am J Med Genet. 2004; 130A(4): 340-344

  • Wibrand F. A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum.
    Clin Chim Acta. 2004; 347(1-2): 89-96

  • Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA. X-linked high myopia associated with cone dysfunction.
    Arch Ophthalmol. 2004; 122(6): 897-908

Populærvidenskabelige artikler

  • Brøndum-Nielsen K.
    Autisme.
    Nyhedsbrev den 10. maj 2004 fra Københavns Universitets om satsningsområdet: Krop og Bevidsthed

  • Jensen TG, Brøndum-Nielsen K.
    Genterapi er fremtidens behandlingsform.
    Kronik i Berlingske Tidende 20. oktober 2004