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Sidst opdateret: 16/11 2017
Publikationer 2008
Kontakt: Webmaster

Videnskabelige publikationer

  • Andersen MV, Rosenberg T, la Cour M, Kiilgaard JF, Prause JU, Alsbirk PH, Borch-Johnsen K, Peto T, Carstensen B, Bird AC.
    Prevalence of age-related maculopathy and age-related macular degeneration among the Inuit in Greenland.
    Ophthalmology 2008 115:700-7

  • Barken SS, Skibsted L, Jensen LN, Sperling L, Zingenberg H, Brøndum-Nielsen K.
    Diagnosis and prediction of parental origin of triploidies by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11-14 weeks of gestation.
    Acta Obstet Gynecol Scand 2008, 87:975-8

  • Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM.
    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
    Eur J Hum Genet 2008, 16:453-61

  • Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. 2008 Clinical genetics and the Hutterite population: a review of Mendelian disorders.
    Am J MedGenet 2008, 146A:1088-98

  • * Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman JA, Larsen LA, Tümer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F.
    Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.
    J Med Genet. 2008 Oct;45(10):672-8. Epub 2008 Jul 15

  • Debes NM, Skov L, Hjalgrim H.
    Tourette syndrom, genetik, neuroanatomi, og neurotransmittere.
    Ugeskr Laeger 2008, 170:2693

  • Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.
    Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
    Hum Mutat 2008, 29:451

  • Ekelund CK, Skibsted L, Søgaard K, Main KM, Dziegiel MH, Schwartz M, Moeller N, Roos L, Tabor A.
    Dizygotic monochorionic twin pregnancy conceived following intracytoplasmic sperm injection treatment and complicated by twin-twin transfusion syndrome and blood chimerism.
    Ultrasound Obstet Gynecol. 2008 Nov;32(6):832-4

  • * Engenheiro EL, Møller RS, Pinto M, Soares G, Nikanorova M, Marques I, Ullmann R, Tommerup N, Tümer Z.
    Mowat-Wilson Syndrome: an underdiagnosed syndrome?
    Clin Genet 2008, 73:579-84

  • * Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, Ropers HH, Tommerup N, Ullmann R, Tümer Z, Larsen LA.
    Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.
    Eur J Med Genet 2008, 51:81-6

  • * Erdogan F, Larsen LA, Zhang L, Tommerup Z, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Tümer Z, Ullmann R.
    High frequency of submicroscopic genomic aberrations in patients with congenital heart disease detected by tiling path array CGH.
    J Med Genet. 2008 Nov;45(11):704-9. Epub 2008 Aug 19

  • Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N.
    A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
    Eur J Hum Genet. 2008 Mar;16(3):312-9. Epub 2008 Jan 9

  • Gonsorcíková L, Pruhová S, Cinek O, Ek J, Pelikánová T, Jørgensen T, Eiberg H, Pedersen O, Hansen T, Lebl J.
    Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.
    Pediatr Diabetes. 2008 Aug;9(4 Pt 2):367-72. Epub 2008 Mar 5

  • Gronskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. 2008 Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism.
    Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. Epub 2008 Dec 5.

  • Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G.
    Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
    Eur J Hum Genet. 2009 Apr;17(4):517-24. Epub 2008 Nov 5

  • Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Adeyemo A, Rotini CN, Sheffield VC, Rosenberg T, Brondum-Nielsen K.
    Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl patients. Am J Med Genet A. 2008 Feb 15;146A(4):517-20

  • Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T.
    A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in Faroe Islands.
    Br J Ophthalmol. 2009 Mar;93(3):409-13. Epub 2008 Jul 31

  • Jacobsen N, Jensen H, Goldschmidt E.
    Does the level of physical activity in university students influence development and progression: a 2-year prospective cohort study.
    Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1322-7

  • Jorsal A, Tarnow L, Lajer M, Ek J, Hansen T, Pedersen O, Parving HH.
    The PPAR gamma 2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy.
    Mol Genet Metab. 2008 Jul;94(3):347-51. Epub 2008 May 7

  • Kjaersgaard S, Hahnemann JM, Skibsted L, Jensen LN, Sperling L, Zingenberg H, Kristiansen A, Brøndum-Nielsen K.
    Prenatal diagnosis of chromosome aberrations after implementation of screening for Downs syndrome.
    Ugeskr Læger 2008;170(14):1152 [in Danish]

  • Krøyer K, Christensen U, Larsen M, la Cour M.
    Quantification of Metamorphopsia in Patients with Macular Hole.
    Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3741-6. Epub 2008 Apr 30

  • Krøyer K, la Cour M, Larsen M.
    Dissociation of rod and cone sensitivity by acute localized retinal pigment epithelium loss.
    Acta Ophthalmol. 2008 May;86(3):338-40. Epub 2007 Jul 28

  • * Kaalund S, Møller RS, Teszas A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z.
    Investigation of the chromosome 4 long arm deletion in two patients with a cryptic translocation and interstitial deletion using array CGH.
    Am J Med Genet 146A:2431-4

  • Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, Jørgensen MW, Vogel I.
    Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.
    Acta Obstet Gynecol Scand. 2008;87(11):1252-5

  • Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK.
    Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
    Nat Genet. 2008 Aug;40(8):949-51. Epub 2008 Jul 11

  • Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Zuchner S, Bowes Rickman C, Young TL.
    Evaluation of the X-Linked High Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies.
    Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552-8. Epub 2008 Dec 20

  • Møller LB and Horn N
    Mutation detection in the Menkes gene ATP7A using the protein truncation test.
    Clinical Medicine: Pathology 2008, 1:1-5

  • * Møller R, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z.
    Balanced translocation in a patient with severe epilepsy and mental retardation disrupts the sodium channel gene SCN1A.
    Epilepsia 2008, 49(6):1091-4

  • * Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM.
    Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
    Am J Hum Genet. 2008 May;82(5):1165-70. Epub 2008 Apr 10

  • Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.
    Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
    Mol Vis 2008, 14:1081-93

  • Noergaard MH, Pedersen DB, Bang K, Jensen PK, Kiilgaard JF, Stefánsson E, la Cour M.
    Indomethacin decreases optic nerve oxygen tension by a mechanism other than cyclo-oxygenase inhibition.
    Br J Ophthalmol. 2008 Jan;92(1):126-30. Epub 2007 Oct 26

  • Noergaard MH, Bach-Holm D, Scherfig E, Bang K, Jensen PK, Kiilgaard JF, Stefánsson E, la Cour M.
    Dorzolamide increases retinal oxygen tension after branch retinal vein occlusion.
    Invest Ophthalmol Vis Sci. 2008 Mar;49(3):1136-41

  • Poulsen L, Søe MJ, Snakenborg D, Møller LB, Dufva M.
    Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface.
    Nucleic Acids Res. 2008 Nov;36(20):e132. Epub 2008 Sep 19

  • Ravn K and Nielsen JB.
    A thorough MECP2 mutation analysis.
    Clin Genet 2008, 74:574

  • Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study group [Rosenberg T].
    Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
    Hum Mutat 2008, 29:1228-36

  • Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L.
    A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing DFNA22 family.
    Am J Med Genet 2008, 146A:1017-25

  • Slidsborg C, Olesen HB, Jensen PK, Jensen H, Nissen KR, Greisen G, Rasmussen S, Fledelius HC, la Cour M.
    Treatment for retinopathy of prematurity in Denmark in a ten-year period (1996 2005): is the incidence increasing?
    Pediatrics 2008, 121: 97-105

  • Taarnhøj NC, Munch IC, Sander B, Kessel L, Hougaard JL, Kyvik K, Sørensen TI, Larsen M.
    Straight versus tortuous retinal arteries in relation to blood pressure and genetics.
    Br J Ophthalmol 2008, 92:1055-60

  • * Vestergaard J, Lind-Thomsen A, Pedersen MW, Jarmer HO, Bak M, Hasholt L, Tommerup N, Tümer Z, Larsen LA.
    GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.
    DNA Cell Biol 2008, 27:251-6

  • Wang M, Munch IC, Hasler PW, Prünte C, Larsen M.
    Central serous chorioretinopathy.
    Acta Ophthalmol. 2008, 86:126-45

  • Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Invest Ophthalmol Vis Sci 2008, 49:751-7

  • Zibrandtsen N, Munch IC, Klemp K, Jørgensen TM, Sander B, Larsen M. 2008 Photoreceptor atrophy in acute zonal occult outer retinopathy.
    Acta Ophthalmol 2008, Jun 11. [Epub ahead of print]

  • Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A.
    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
    J Med Genet 2008, 45:738-44
* Disse publikationer blev udarbejdet mens Zeynep Tümer var ansat på Institut for Cellulær og Molekylær Medicin, Københavns Universitet, men de blev publiceret i 2008 efter ZT tiltrådte som professor på Kennedy Centret.