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Sidst opdateret: 16/11 2017
Publikationer 2014

 

Videnskabelige publikationer

  • Almdal TP, Handlos LN, Valerius M, Juul E, Nielsen KE, Vistisen D, Nielsen LB, Sheikh A, Belhadj M, Nadir D, Zinai S, Raposo J, Lund-Andersen H, Witte DR.
    Glycaemic threshold for diabetes-specific retinopathy among individuals from Saudi Arabia, Algeria and Portugal.
    Diabetes Res Clin Pract. 2014 Mar;103(3):e44-6. doi: 10.1016/j.diabres.2013.12.023. Epub 2014 Jan 14.

  • Andersen JB, Diness BR, Brøndum-Nielsen K.
    Presymptomatic genetic testing in minors should only be performed when intervention is possible.
    Ugeskr Laeger. 2014 Dec 22;176(52). pii: V06140367. [Article in Danish]

  • Andersson M, Mattle D, Sitsel O, Klymchuk T, Nielsen AM, Møller LB, White SH, Nissen P,
    Copper-transporting P-type ATPases use a unique ion-release pathway.
    2014 Jan;21(1):43-8. Epub 2013 Dec 8.

  • Bertelsen B, Melchior L, Groth C, Mol Debes N, Skov L, Holst KK, Fagerlund B, Mikkelsen JD, Tümer Z.
    Association of the CHRNA7 promoter variant -86T with tourette syndrome and comorbid OCD.
    Psychiatry Res. 2014 Nov 30;219(3):710-1. doi: 10.1016/j.psychres.2014.06.032. Epub 2014 Jun 28. No abstract available.

  • Bertelsen B, Melchior L, Jensen LR, Groth C, Glenthøj B, Rizzo R, Debes NM, Skov L, Brøndum-Nielsen K, Paschou P, Silahtaroglu A, Tümer Z.
    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
    Eur J Hum Genet. 2014 Nov;22(11):1283-9. doi: 10.1038/ejhg.2014.24. Epub 2014 Feb 19.

  • Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z.
    Cornelia de Lange Syndrome.
    Clin Genet. 2014 Sep 11. doi: 10.1111/cge.12499. [Epub ahead of print]

  • Dad S, Ostergaard E, Wadt K, Lunding J, Eiberg H, Møller L.
    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.
    Clin Genet. 2014 Apr;85(4):390-2. doi: 10.1111/cge.12161. Epub 2013 Apr 29.

  • Delgado MS, Camprubí C, Tümer Z, Martínez F, Milà M, Monk D.
    Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
    Am J Med Genet B Neuropsychiatr Genet. 2014 Sep;165(6):472-8. doi:10.1002/ajmg.b.32250. Epub 2014 Jul 1.

  • De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B.
    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
    Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.124. [Epub ahead of print]

  • Grønskov K, Brøndum-Nielsen K, Lorenz B, Preising MN
    Clinical utility gene card for: Oculocutaneous albinism
    European Journal of Human Genetics 2014 Aug;22(8). doi: 10.1038/ejhg.2013.307. Epub 2014 Feb 12.

  • Grønskov K, Diness B, Stahlhut M, Zilmer M, Tümer Z, Bisgaard AM, Brøndum-Nielsen K.
    Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
    Eur J Med Genet. 2014 May-Jun;57(6):284-7. doi: 10.1016/j.ejmg.2014.03.009. Epub 2014 Apr 13.

  • Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe J, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA.
    Emerging topics in FXTAS.
    J Neurodev Disord. 2014;6(1):31. doi: 10.1186/1866-1955-6-31. Epub 2014 Jul 30. Review.

  • Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U.
    Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
    J Clin Invest. 2014 Jul 1;124(7):3107-20. doi: 10.1172/JCI73778. Epub 2014 Jun 9.

  • Jønch AE, Grønskov K, Carlsen Lunding JM, Nielsen JE, Brøndum-Nielsen K.
    Fragilt X præmutations bærere kan udvise en bred vifte af kliniske manifestationer.
    Ugeskr Laeger. 2014 Jun 23;176(26). pii: V02140099.

  • Jønch AE, Timshel S, Lunding J, Grønskov K & Brøndum-Nielsen K
    Fra mental retardering til målrettet behandling ved fragilt X-syndrom
    Ugeskrift Læger 2014;176:V06130350

  • Kaalund SS, Venø MT, Bak M, Møller RS, Laursen H, Madsen F, Broholm H, Quistorff B, Uldall P, Tommerup N, Kauppinen S, Sabers A, Fluiter K, Møller LB, Nossent AY, Silahtaroglu A, Kjems J, Aronica E, Tümer Z.
    Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.
    Epilepsia. 2014 Dec;55(12):2017-27. doi: 10.1111/epi.12839. Epub 2014 Nov 19.

  • Rasmussen MA, Holst B, Tümer Z, Johnsen MG, Zhou S, Stummann TC, Hyttel P, Clausen C.
    Transient p53 Suppression Increases Reprogramming of Human Fibroblasts without Affecting Apoptosis and DNA Damage.
    Stem Cell Reports. 2014 Sep 9;3(3):404-13. doi: 10.1016/j.stemcr.2014.07.006. Epub 2014 Aug 21.

  • Roende 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. 2014 Apr;75(4):551-8. doi: 10.1038/pr.2013.252. Epub 2013 Dec 27.

  • Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Grønskov K, Tümer Z.
    A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
    Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25.

  • Rönnbäck C, Grønskov K, Larsen M.
    Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects.
    Acta Ophthalmol. 2014 Mar 11. doi: 10.1111/aos.12378. [Epub ahead of print]

  • Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A.
    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
    Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1.

  • Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W.
    Increasing the complexity: new genes and new types of albinism.
    Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17.

  • 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. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11.

  • Nasser A, Møller LB.
    GCH1 gene variants, tetrahydrobiopterin and pain.
    Scand J Pain, Volume 5 (2), April 2014, 121–128

  • Nasser A, Møller LB, Olesen JH, Konradsen LS, Andreasen JT.
    Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin.
    Neurosci Res. 2014 Sep 10. pii: S0168-0102(14)00191-6. doi: 10.1016/j.neures.2014.08.015. [Epub ahead of print]

  • Rajkumar AP1, Christensen JH, Mattheisen M, Jacobsen I, Bache I, Pallesen J, Grove J, Qvist P, McQuillin A, Gurling HM, Tümer Z, Mors O, Børglum AD.
    Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder.
    Bipolar Disord. 2014 Jul 23. doi: 10.1111/bdi.12239. [Epub ahead of print]

  • Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Grønskov K, Tümer Z.
    A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
    Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25.

  • Rönnbäck C1, Grønskov K, Larsen M.
    Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects.
    Acta Ophthalmol. 2014 Nov;92(7):670-4. doi: 10.1111/aos.12378. Epub 2014 Mar 11.

  • Sánchez Delgado M, Camprubí C, Tümer Z, Martínez F, Milà M, Monk D.
    Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
    Am J Med Genet B Neuropsychiatr Genet. 2014 Sep;165B(6):472-8. doi: 10.1002/ajmg.b.32250. Epub 2014 Jul 1.

  • Sessa G, Hjortshøj TD, Egfjord M.
    Hereditary cerebro-oculo-renal syndromes.
    Ugeskr Laeger. 2014 Feb 17;176(8A). pii: V07130452. [Article in Danish]

  • Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.
    3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
    J Med Genet. 2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16.

  • Tranebjærg L, Rendtorff ND, Brøndum-Nielsen K.
    The genome in terms of audiology and ophthalmology.
    Ugeskr Laeger. 2014 Nov 10;176(46). pii: V06140365. [Article in Danish]

  • Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB.
    Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
    Eur J Hum Genet. 2014 Apr;22(4):517-21. doi: 10.1038/ejhg.2013.191. Epub 2013 Sep 4.

  • Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA.
    Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.
    Mol Syndromol. 2014 Feb;5(2):65-75. doi: 10.1159/000357962. Epub 2014 Jan 29.