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Sidst opdateret: 16/11 2017
Publikationer 2012
Kontakt: Webmaster

Videnskabelige publikationer

  • Abbott D, Li YJ, Guggenheim JA, Metlapally R, Malecaze F, Calvas P, Rosenberg T, Paget S, Zayats T, Mackey DA, Feng S, Young TL.
    An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.
    Mol Vis. 2012;18:720-9. Epub 2012 Mar 26.

  • Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K.
    Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90 %
    BMC Med Genet. 2012 Aug 2;13(1):65.

  • Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.
    De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Eur J Med Genet. 2012 Aug;55(8-9):490-7. Epub 2012 Apr 12.

  • Belanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Macdonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M, Ahring K.
    Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers.
    Mol Genet Metab. 2012 Mar;105(3):390-4. doi: 10.1016/j.ymgme.2011.12.004. Epub 2011 Dec 13.

  • Bertelsen M, Linneberg A, Rosenberg T, Christoffersen N, Vorum H, Gade E, Larsen M.
    Comorbidity in patients with branch retinal vein occlusion: case-control study.
    BMJ. 2012 Nov 30;345:e7885. doi: 10.1136/bmj.e7885.

  • Bertelsen B, Melchior L, Debes NM, Skov L, Brøndum-Nielsen K, Tümer Z.
    Genetikken bag Gilles de la Tourette syndrom.
    Ugeskr Laeger. 2012 Feb 20;174(8):484-487.

  • Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T.
    Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
    Am J Ophthalmol. 2012 Aug;154(2):403-412.e4. doi: 10.1016/j.ajo.2012.02.036. Epub 2012 May 24.

  • Bloch SB, Larsen M, Munch IC
    Incidence of Legal Blindness From Age-Related Macular Degeneration in Denmark: Year 2000 to 2010
    Am J Ophthalmol. 2012 Feb;153(2):209-213.e2.

  • Boonen SE, Hahnemann JM, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K.
    No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
    Eur J Hum Genet. 2012 Jan;20(1):119-21. Epub 2011 Aug 24.

  • Brøgger AL, Kwasny D, Bosco FG, Tümer Z, Boisen A, Svendsen WE (2012).
    Centrifugally driven microfluidic disc for detection of chromosomal translocations.
    Lab Chip. 2012 Nov 21;12(22):4628-34. doi: 10.1039/c2lc40554g.

  • Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM.
    Absence of NR2E1 mutations in patients with aniridia.
    Mol Vis.2012;18:2770-82. Epub 2012 Nov 22.

  • Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A.
    Optimising growth in phenylketonuria: current state of the clinical evidence base.
    Clin Nutr. 2012 Feb;31(1):16-21. doi: 10.1016/j.clnu.2011.09.001. Epub 2011 Sep 29.

  • Duno M, Schwartz M, Larsen PL, Rosenberg T.
    Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
    Ophthalmic Genet. 2012 Dec;33(4):225-31. doi: 10.3109/13816810.2011.643441. Epub 2012 Jan 9.

  • *Duus K, Larsen N, Tran TA, Güven E, Skov LK, Jespersgaard C, Gajhede M, Houen G.
    Chemical and thermal unfolding of calreticulin.
    Protein Pept Lett. 2012 Sep 14. [Epub ahead of print]

  • Fledelius HC, Rosenberg T.
    Bilateral symmetric autosomal dominant sector chorioretinopathy with late maculopathy: a review based on a case with 48 years follow-up.
    Eur J Ophthalmol. 2012 Mar-Apr;22(2):280-3

  • *Fode P, Larsen AR, Feenstra B, Jespersgaard C, Skov RL, Stegger M, Fowler VG Jr; Danish SAB Study Group Consortium, Andersen PS.
    Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.
    PLoS One. 2012;7(2):e32315. doi: 10.1371/journal.pone.0032315. Epub 2012 Feb 22.

  • Galve J, Vicente A, González-Enseñat MA, Pérez-Dueñas B, Cusí V, Møller LB, Julià M, Domínguez A, Ferrando J.
    Neonatal erythroderma as a first manifestation of menkes disease.
    Pediatrics. 2012 Jul;130(1):e239-42. Epub 2012 Jun 18

  • Gourdon P, Sitsel O, Lykkegaard Karlsen J, Birk Møller L, Nissen P.
    Structural models of the human copper P-type ATPases ATP7A and ATP7B.
    Biol Chem. 2012 Apr;393(4):205-16. doi: 10.1515/hsz-2011-0249.

  • Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški-Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.
    Rett Networked Database: An integrated clinical and genetic network of Rett syndrome databases.
    Hum Mutat. 2012 Mar 13. doi: 10.1002/humu.22072. [Epub ahead of print]

  • Halgren C, Bache I, Bak M, Myatt MW, Anderson CM, Brøndum-Nielsen K, Tommerup N.
    Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
    Eur J Hum Genet. 2012 May 23. doi: 10.1038/ejhg.2012.92. [Epub ahead of print]

  • *Harris RA, Nagy-Szakal D, Pedersen N, Opekun A, Bronsky J, Munkholm P, Jespersgaard C, Andersen P, Melegh B, Ferry G, Jess T, Kellermayer R.
    Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases.
    Inflamm Bowel Dis. 2012 Dec;18(12):2334-41. doi: 10.1002/ibd.22956. Epub 2012 Mar 29.

  • Huppke PM; Brendel C; Kahlscheuer V; Korenke G; Marquardt I; Freisinger P; Christodoulou J; Hillebrand M; Pitelet G; Wilson C; Gruber-Sedlmayr U; Ullmann R; Haas S; Elpeleg O; Nürnberg O; Nürnberg P; Dad S; Møller LB; Kaler S; Gärtner J.
    Mutations in SLC33A1 cause a lethal autosomal recessive disorder with congenital cataracts and hearing loss associated with low serum copper and ceruloplasmin.
    Am J Hum Genet. 2012 Jan 13;90(1):61-8.

  • Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, Møller LB, Christodoulou J, Kaler SG, Gärtner J.
    Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
    Hum Mutat. 2012 Apr 16. doi: 10.1002/humu.22099 [Epub ahead of print]

  • Jønch AE, Danielsen ER, Thomsen C, Meden P, Svenstrup K, Nielsen JE.
    Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
    BMC Neurol. 2012 Sep 26;12:108. doi: 10.1186/1471-2377-12-108.

  • Jønch AE, Larsen LG, Pouplier S, Nielsen K, Brøndum-Nielsen K, Tümer Z.
    Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus.
    Am J Med Genet A. 2012 Sep;158A(9):2302-8. doi: 10.1002/ajmg.a.35505. Epub 2012 Jul 27.

  • Kwasny D, Vedarethinam I, Shah P, Dimaki M, Silahtaroglu A, Tumer Z, Svendsen WE.
    Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization.
    Biomed Microdevices. 2012 Jun;14(3):453-60

  • Lenartowicz M, Krzeptowski W, Koteja P, Chrzascik K, Møller LB
    Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).
    PLoS One. 2012;7(7):e40400. Epub 2012 Jul 18

  • Lorentzen J, Willerslev-Olsen M, Crone C, Sinkjær T, Nielsen JB
    Ny viden om spasticitet og dens behandling
    Ugeskr Læger 2012;174(9):569-573 Epub 2011, Dec 5 


  • Møller LB, Lenartowicz M, Zabot MT, Arnaud J, Burglen L, Bennett C, Riconda D, Janssens S, Fisher R, Mohammed S, Ausems M, Tümer Z, Horn N, Jensen TG.
    Clinical expression of Menkes disease in females with normal karyotype.
    Orphanet Journal of Rare Diseases Orphanet J Rare Dis. 2012 Jan 22;7(1):6. [Epub ahead of print]

  • *Persson S, Petersen HM, Jespersgaard C, Olsen KE.
    Real-time TaqMan polymerase chain reaction-based genus-identification and pyrosequencing-based species identification of Campylobacter jejuni, C. coli, C. lari, C. upsaliensis, and C. fetus directly on stool samples.
    Diagn Microbiol Infect Dis. 2012 Sep;74(1):6-10. doi: 10.1016/j.diagmicrobio.2012.05.029. Epub 2012 Jul 6.

  • 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. 2012 Feb;43(1):37-43.

  • Ravn K, Lindquist S, Nielsen K, Dahm T, Tümer Z.
    Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
    Clin Genet. 2012 Sep;82(3):292-4. doi: 10.1111/j.1399-0004.2011.01839.x. Epub 2012 Jan 11.

  • Roos LS, Grønskov K, Jensen H, Tümer Z.
    The genetic background for the eye malformations anophthalmia and microphthalmia.
    Ugeskr Laeger. 2012 Mar 12;174(11):713-716. [Article in Danish]

  • Schatz P, Bregnhøj J, Arvidsson H, Sharon D, Mizrahi-Meissonnier L, Sander B, Grønskov K, Larsen M.
    A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
    Mol Vis. 2012;18:1147-55. Epub 2012 May 2.

  • Sitarz KS, Almind GJ, Horvath R, Czermin B, Grønskov K, Pyle A, Taylor RW, Larsen M, Chinnery PF, Yu-Wai-Man P.
    OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.
    Neurology. 2012 Oct 2;79(14):1515-7. doi: 10.1212/WNL.0b013e31826d5f60. Epub 2012 Sep 19.

  • Skjørringe T, Møller LB, Moos T.
    Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders.
    Front Pharmacol. 2012;3:169. doi: 10.3389/fphar.2012.00169. Epub 2012 Sep 25.

  • Slidsborg C, Bangsgaard R, Fledelius HC, Jensen H, Greisen G, la Cour M.
    Cerebral Damage May Be the Primary Risk Factor for Visual Impairment in Preschool Children Born Extremely Premature.
    Arch Ophthalmol. 2012 Jun 11:1-8. doi: 10.1001/archophthalmol.2012.1393. [Epub ahead of print]

  • *Steinmetz J, Jespersgaard C, Dalhoff K, Hedley P, Abildstrøm H, Christiansen M, Rasmussen LS; ISPOCD group.
    Cytochrome P450 polymorphism and postoperative cognitive dysfunction.
    Minerva Anestesiol. 2012 Mar;78(3):303-9.

  • Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Lucamp, Grønskov K, Brøndum-Nielsen K.
    A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.
    Neurobiol Aging. 2012 Jan;33(1):208.e1-5. Epub 2011 Aug 26.

  • *Voigt Hansen M, Rasmussen LS, Jespersgaard C, Rosenberg J, Gogenur I.
    There is no association between the circadian clock gene HPER3 and cognitive dysfunction after noncardiac surgery.
    Anesth Analg. 2012 Aug;115(2):379-85. doi: 10.1213/ANE.0b013e318253d6b3. Epub 2012 Apr 27.

  • Zschocke J, Haverkamp T, Møller LB.
    Clinical utility gene card for: Phenylketonuria.
    Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.172. Epub 2011 Sep 14.
    No abstract available.

*
Disse publikationer blev udarbejdet mens Cathrine Jespersgaard var ansat på Afdeling for Klinisk Biokemi og Immunologi, Statens Serum Institut, men de blev publiceret i 2012 efter CJ tiltrådte som Post Doc på Kennedy Centret.