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Sidst opdateret: 16/11 2017
Publikationer 2013
Kontakt: Webmaster

Videnskabelige publikationer

  • Andreasen JT, Bach A, Gynther M, Nasser A, Mogensen J, Strømgaard K, Pickering DS.
    UCCB01-125, a dimeric inhibitor of PSD-95, reduces inflammatory pain without disrupting cognitive or motor performance: Comparison with the NMDA receptor antagonist MK-801.
    Neuropharmacology. 2013 Apr;67:193-200.. Epub 2012 Nov 20.

  • Bertelsen B, Debes NM, Hjermind LE, Skov L, Brøndum-Nielsen K, Tümer Z.
    Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
    Neurogenetics. 2013 Nov;14(3-4):197-203. Epub 2013 Aug 29. [Epub ahead of print]

  • Bertelsen M, Jensen H, Larsen M, Lorenz B, Preising MN, Rosenberg T.
    Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children.
    Ophthalmic Epidemiol. 2013 May 10. [Epub ahead of print]

  • Bertelsen M, Linneberg A, Christoffersen N, Vorum H, Gade E, Larsen M.
    Mortality in Patients with Central Retinal Vein Occlusion.
    Ophthalmology. 2013 Sep 17. pii: S0161-6420(13)00662-3. doi:10.1016/j.ophtha.2013.07.025. [Epub ahead of print]

  • Bertelsen M, Rosenberg T, Larsen M.
    New treatments of hereditary blindness.
    Ugeskr Laeger. 2013 Sep 2;175(36):2038-2042. [Article in Danish]

  • Bloch SB, Lund-Andersen H, Sander B, Larsen M.
    Subfoveal fibrosis in eyes with neovascular age-related macular degeneration treated with intravitreal ranibizumab.
    Am J Ophthalmol. 2013 Jul;156(1):116-124. Epub 2013 May 8.

  • Boonen SE, Mackay DJ, Hahnemann JM, Docherty L, Grønskov K, Lehmann A, Larsen LG, Haemers AP, Kockaerts Y, Dooms L, Vu DC, Ngoc CT, Nguyen PB, Kordonouri O, Sundberg F, Dayanikli P, Puthi V, Acerini C, Massoud AF, Tümer Z, Temple IK.
    Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up.
    Diabetes Care. 2013 Mar;36(3):505-12. Epub 2012 Nov 12.

  • Brøndum-Nielsen K, Jensen H, Timshel S, Grønskov K, Larsen M.
    Genetic testing and counselling in inherited eye disease.
    Ugeskr Laeger. 2013 Sep 2;175(36):2031-4. [Article in Danish]

  • Buttenschøn HN, Jacobsen IS, Grynderup MB, Hansen AM, Kolstad HA, Kaerlev L, Thomsen JF, Nordentoft M, Silahtaroglu A, Tommerup N, Tümer Z, Krogh J, Børglum AD, Mors O.
    An association study between the norepinephrine transporter gene and depression.
    Psychiatr Genet. 2013 Oct;23(5):217-21

  • Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.
    The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
    Am J Med Genet A. 2013 Aug;161A(8):1833-52 Epub 2013 Jun 27

  • Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.
    A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome.
    Gene. 2013 Feb 25;515(2):372-5. Epub 2012 Dec 20.

  • Engelbrechtsen L, Brøndum-Nielsen K, Ekelund C, Tabor A, Skibsted L; the Danish Fetal Medicine study group.
    Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women.
    Ultrasound Obstet Gynecol. 2013 Nov;42(5):530-5. Epub 2013 Oct 9.

  • Fledelius HC, Jensen H.
    Infantile nystagmus and visual deprivation: foveal instability and refractive development in a low vision register series.
    Eur J Ophthalmol. 2013 Dec 23:0 [Epub ahead of print]

  • Gilling M, Rasmussen HB, Calloe K, Sequeira AF, Baretto M, Oliveira G, Almeida J, Lauritsen MB, Ullmann R, Boonen SE, Brondum-Nielsen K, Kalscheuer VM, Tümer Z, Vicente AM, Schmitt N, Tommerup N.
    Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.
    Front Genet. 2013 Apr 16;4:54. doi: 10.3389/fgene.2013.00054. Print 2013.

  • Gokmen Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, Macdonald A, Dokoupil K.
    Use of sapropterin in the management of phenylketonuria: Seven case reports.
    Mol Genet Metab. 2013 Feb;108(2):109-11. Epub 2012 Nov 28.

  • Grønskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Møllgård K, Stemple DL, Rosenberg T.
    Mutations in C10orf11, Encoding a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism.
    Am J Hum Genet. 2013 Feb 5. pii: S0002-9297(13)00037-2.. [Epub ahead of print]

  • Hansen GL, Kofoed PK, Munch IC, Sillesen H, Jensen LP, Iversen HK, Larsen M.
    Retinal angiographic blood flowmetry is reduced in the ocular ischaemic syndrome.
    Dan Med J. 2013 Oct;60(10):A4716.

  • Hansen MS, Klefter ON, Larsen M.
    Retinal degeneration and persistent serous detachment in the absence of active choroidal neovascularization in pseudoxanthoma elasticum.
    Acta Ophthalmol. 2013 Aug 30 [Epub ahead of print]

  • Hertz JM, Gerdes AM, Grønskov K, Thomassen M, Vogel I.
    Genome sequencing--clinical use. [Article in Danish]
    Ugeskr Laeger. 2013 Mar 18;175(12):818.

  • Johnson LE, Larsen M, Perez MT.
    Retinal adaptation to changing glycemic levels in a rat model of type 2 diabetes.
    PLoS One. 2013;8(2):e55456. doi: 10.1371/journal.pone.0055456. Epub 2013 Feb 8

  • Kofoed PK, Munch IC, Holfort SK, Sillesen H, Jensen LP, Iversen HK, Larsen M.
    Cone pathway function in relation to asymmetric carotid artery stenosis: correlation to blood pressure.
    Acta Ophthalmol. 2012 Jun 8. doi: 10.1111/j.1755-3768.2012.02438.x. [Epub ahead of print]

  • Kofoed PK, Munch IC, Larsen M.
    Cone pathway function in relation to asymmetric carotid artery stenosis: correlation to blood pressure - Author's reply.
    Acta Ophthalmol. 2012 Jun 8. [Epub ahead of print]

  • Leruez S, Milea D, Defoort-Dhellemmes S, Colin E, Crochet M, Procaccio V, Ferré M, Lamblin J, Drouin V, Vincent-Delorme C, Lenaers G, Hamel C, Blanchet C, Juul G, Larsen M, Verny C, Reynier P, Amati-Bonneau P, Bonneau D.
    Sensorineural hearing loss in OPA1-linked disorders.
    Brain. 2013 Jul;136(Pt 7):e236 Epub 2013 Feb 4.

  • Melchior L, Bertelsen B, Debes NM, Groth C, Skov L, Mikkelsen JD, Brøndum-Nielsen K, Tümer Z.
    Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities.
    Am J Med Genet B Neuropsychiatr Genet. 2013 Jul 27. doi: 10.1002/ajmg.b.32186. [Epub ahead of print]

  • Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Ostergaard JR.
    Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis.
    Am J Med Genet A. 2013 Sep;161(9):2197-203. doi: 10.1002/ajmg.a.36058. Epub 2013 Aug 2.

  • Munch IC, Linneberg A, Larsen M.
    Precursors of age-related macular degeneration: associations with physical activity, obesity, and serum lipids in the inter99 eye study.
    Invest Ophthalmol Vis Sci. 2013 Jun 6;54(6):3932-40. doi: 10.1167/iovs.12-10785.

  • Munk MR, Kiss CG, Huf W, Montuoro A, Sulzbacher F, Kroh M, Larsen M, Schmidt-Erfurth U.
    Visual acuity and microperimetric mapping of lesion area in eyes with inflammatory cystoid macular oedema.
    Acta Ophthalmol. 2013 Jun 27 [Epub ahead of print]

  • Møller LB, Rea G, Yasmeen S, Skjørringe T, Thorborg SS, Morrison PJ, Donnelly DE.
    A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
    Mol Genet Metab. 2013 Dec;110(4):490-2. doi: 10.1016/j.ymgme.2013.09.012. Epub 2013 Sep 24.

  • Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.
    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
    Hum Genet. 2013 Dec 11. [Epub ahead of print]

  • Nasser A, Bjerrum OJ, Heegaard AM, Møller AT, Larsen M, Dalbøge LS, Dupont E, Jensen TS, Møller LB.
    Impaired behavioural pain responses in hph-1 mice with inherited deficiency in GTP cyclohydrolase 1 in models of inflammatory pain.
    Mol Pain. 2013 Feb 19;9(1):5. [Epub ahead of print]

  • Ostergaard E, Duno M, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Aliefendioglu D, Leth H, Dahl M, Christensen E, Wibrand F.
    Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.
    JIMD Rep. 2013;9:1-5.. Epub 2012 Aug 31.

  • Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group.
    Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases.
    Neuropediatrics. 2013 Aug;44(4):237-8. doi: 10.1055/s-0033-1343839. Epub 2013 Apr 11.

  • Rendtorff ND, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansen EV, Nickelsen LAA, Tümer Z, Fagerheim T, Wetke R, Tranebjærg L (2013)
    SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
    Clin Genet 2013 Oct;84(4):388-91 Epub 2013 Jan 22

  • Rønde G, Petersen J, Ravn K, Fuglsang K, Andersen H, Nielsen JB, Brøndum-Nielsen K, Jensen JE.
    Low bone turnover phenotype in Rett syndrome: Results of biochemical bone marker analysis.
    Pediatr Res. 2013 Dec 27 [Epub ahead of print]

  • Rönnbäck C, Milea D, Larsen M.
    Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy.
    Ophthalmology. 2013 Dec;120(12):2672-7 Epub 2013 Oct 10.

  • Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z.
    Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
    Am J Med Genet A. 2013 Sep;161(9):2358-62. doi: 10.1002/ajmg.a.36099. Epub 2013 Jul 25.

  • Shah P, Vedarethinam I, Kwasny D, Andresen L, Skov S, Silahtaroglu A, Tümer Z, Dimaki M, Svendsen W.
    A novel integrated device for metaphase FISH sample preparation.
    Micromachines (accepted)

  • Sharon D, Al-Hamdani S, Engelsberg K, Mizrahi-Meissonnier L, Obolensky A, Banin E, Sander B, Jensen H, Larsen M, Schatz P.
    Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
    Am J Ophthalmol. 2013 Dec 14. pii: S0002-9394(13)00780-0 [Epub ahead of print]

  • Sibbesen ELC, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.
    Ring Chromosome 9 in a Girl With Developmental Delay and Dysmorphic Features: Case Report and Review of the Literature.
    Am J Med Genet A. 2013 Jun;161(6):1447-52. doi: 10.1002/ajmg.a.35901. Epub 2013 Apr 30

  • Tümer Z
    An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome.
    Hum Mutat. 2013 Mar;34(3):417-29./humu.22266.

  • Vedarethinam I, Shah P, Dimaki M, Tümer Z, Tommerup N, Svendsen WE.
    Rapid Metaphase FISH on chip: Miniaturized microfluidic device for rapid in-situ hy-bridization. Sensors (accepted)

  • Willerslev A, Li XQ, Cordtz P, Munch IC, Larsen M.
    Retinal and choroidal intravascular spectral-domain optical coherence tomography.
    Acta Ophthalmol. 2013 Apr 1. doi: 10.1111/aos.12048. [Epub ahead of print]

  • Yasmeen S, Melchior L, Bertelsen B, Skov L, Debes NM, Tümer Z.
    Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.
    Psychiatr Genet. 2013 Jun;23(3):130-3