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Sidst opdateret: 16/11 2017
Publikationer 2005
Kontakt: Webmaster

Videnskabelige publikationer

Bentzon JF, Stenderup K, Hansen FD, Schroder HD, Abdallah BM, Jensen TG, Kassem M.
Tissue distribution and engraftment of human mesenchymal stem cells immortalized by human telomerase reverse transcriptase gene.
Biochem Biophys Res Commun. 2005; 330(3): 633-40

Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland H, Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP.
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
Eur J Hum Genet. 2005; 13(2): 198-207

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. 2005; 132(3): 324-8

Christensen R, Kolvraa S, Jensen TG.
Manipulation of the phenylalanine metabolism in human keratinocytes.
Cell Tissues Organs 2005; 179(4): 170-178

Christensen R, Alhonen L, Wahlfors J, Jakobsen M, Jensen TG.
Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin.
Exp Dermatol 2005; 14(7): 535-542

Corydon TJ, Hansen J, Bross P, Jensen TG.
Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydogenase wild-type and disease-associated proteins.
Mol Genet Metab. 2005; 85(4): 260-70

Diepold K, Schutz B, Rostasy K, Wilken B, Hougaard P, Guttler F, Romstad A, Birk Moller L.
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
Movement Disorder 2005; 20: 764-767

Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C.
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
Hum Mol Genet. 2005; 14(1):1-5

Dufva IH, Karle H, Brondum-Nielsen K, Andersen MK, Madsen HO, Johnsen HE.
Chronic myeloid leukaemia with BCR-ABL fusion genes located to both chromosomes 9, cyclic leukocytosis and nodal T-lymphoblastic transformation - durable complete remission following imatinib therapy.
Leukemia. 2005; 19(4): 671-3

Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Eur J Hum Genet. 2005; 13(10): 1113-20

Frøyland E, Wibrand F, Almaas R, Dalen I, Lindstad JK, Rootwelt T.
Acidosis during reoxygenation has an early detrimental effect on neuronal metabolic activity.
Pediatr Res 2005 57:488-93

Fuchs J, Holm K, Vilhelmsen K, Rosenberg T, Scherfig E, Fledelius HC.
Hereditary high hypermetropia in the Faroe Islands.
Ophthalmic Genet. 2005; 26(1):9-15

Haargaard B, Wohlfahrt J, Rosenberg T, Fledelius HC, Melbye M. 
Risk factors for idiopathic congenital/infantile cataract.
Invest Ophthalmol Vis Sci. 2005; 46(9): 3067-73

Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M.
Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.
Am J Med Genet A 2005; 138(2): 150 - 154

Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T.
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
Eur J Hum Genet. 2005; 13(12): 1275-84

Heijl A, Algvere PV, Alm A, Andersen N, Bauer B, Carlsson JO, Ehinger B, Eide N, Fledelius H, Foerster M, Hjortdal J, Holmstrom G, Hovding G, Kivela T, la Cour M, Lindblom B, Moller-Pedersen T, Nikoskelainen E, Prause JU, Riise R, Rosenberg T, Seregard S, Stefansson E, Tarkkanen A, Tervo T, Tornqvist K, Zetterstrom C.
Nordic research in ophthalmology.
Acta Ophthalmol Scand. 2005; 83(3): 278-88

Hjortshoj TD, Gronskov K, Rosenberg T, Brondum-Nielsen K. Bardet-Biedl syndrome.
Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms.
Ugeskr Laeger. 2005; 167(22): 2394-8

Horvath R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Muller-Hocker J, Pongratz D, Moller LB, Horn N, Jaksch M; Shawan.
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.
J Inherit Metab Dis. 2005; 28(4): 479-92

Hutchings Hoffmann M, Wirenfeldt Klausen T, Hasle H, Schmiegelow K, Brondum-Nielsen K, Johnsen HE.
Multiplex reverse transcription polymerase chain reaction screening in acute myeloid leukemia detects cytogenetically unrevealed abnormalities of prognostic significance.
Haematologica. 2005; 90(7): 984-6

Kalkanoglu HS, Ahring K, Sertkaya D, Møller LB, Romstad A, Mikkelsen I, Guldberg P, Lou HC, Güttler F.
Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria.
Acta Paediatrica 2005; 94 (9): 1218-22

Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T.
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
J Med Genet. 2005; 42(4): 292-8

Koch R, Moseley K, Guttler F.
Tetrahydrobiopterin and maternal PKU.
Mol Genet Metab. 2005; 86 Suppl 1: S139-41

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Eur J Hum Genet. 2005; 13(3): 302-8

Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brondum-Nielsen K.
Further delineation of the 22q13 deletion syndrome.
Clin Dysmorphol. 2005; 14(2): 55-60

Moller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Guttler F, Artuch R
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
Prenat Diagn 2005; 25(8): 671-675

Moller LB, Bukrinsky JT, Molgaard A, Paulsen M, Lund C, Tumer Z, Larsen S, Horn N.
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Hum Mutat. 2005; 26(2): 84-93

Moller LB, Ott P, Lund C, Horn N.
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.
Am J Med Genet A. 2005; 138(4): 340-3

Moller LB, Paulsen M, Koch R, Moats R, Guldberg P, Guttler F.
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.
Mol Genet Metab. 2005; 86(4): 119-23

Nguyen KV, Ostergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK.
POLG mutations in Alpers syndrome.
Neurology. 2005; 65(9): 1493-5

Olsen JH, Hahnemann JM, Borresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarstrom L, Robsahm TE, Kaariainen H, Bregard A, Brondum-Nielsen K, Yuen J, Tucker M.
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
Br J Cancer. 2005; 93(2): 260-5

Olsen JH, Hahnemann JM, Borresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarstrom L, Robsahm TE, Kaariainen H, Bregard A, Brondum-Nielsen K, Yuen J, Tucker M.
Increased risk of breast cancer among female relatives of patients with Ataxia-Telangiectasia: a causal relationship? (Author reply)
Br J Cancer. 2005; 93(6): 732.

Ostergaard E, Wibrand F, Orngreen MC, Vissing J, Horn N.
Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
Neurology 2005; 65(6): 931-3

Østergaard E, Bradinova I, Ravn SH, Hansen FJ, Simeonov E, Christensen E, Wibrand F, Schwartz M.
Hypertrichosis in patients with SURF1 mutations.
Am J Med Genet A. 2005; 138(4): 384-8

Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, Caldes T, de La Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN.
Classification of BRCA1 missense variants of unknown clinical significance.
J Med Genet. 2005; 42(2): 138-46

Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M.
Large genomic rearrangements in MECP2.
Hum Mutat. 2005; 25(3): 324

Ravn K, Nielsen JB, Schwartz M.
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.
Clin Genet. 2005; 67(6): 532-3

Rendtorff ND, Bjerregaard B, Frodin M, Kjaergaard S, Hove H, Skovby F, Brondum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group.
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Hum Mutat. 2005; 26(4): 374-83