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Om Kennedy Centret Organisation Medarbejdere Ledige stillinger Årsrapport m.m. Ventetider Her bor vi Kontakt Om kennedy.dk Links English - Limited version Laboratory analyses Laboratory pricelist Laboratory profile Exclusion of liability Research profile PKU, Fragile X and Rett syndrome Center for Fragilt X Center for PKU Center for Rett syndrom Forskning Synshandicap Øjenmalformationer og øjenudvikling Aniridi USHER syndrom Oculocutaneous albinism (OCA) AMD (aldersrelateret makuladegeneration) Autosomal dominant opticus atrofi Glaukom Mental retardering Gilles de Tourette Syndrom (GTS) Kromosomale ubalancer Fragilt X Down syndrom Kobberstofskiftet Menkes sygdom Funktionelle studier af ATP7A proteinet Udvikling af nye behandlingsmuligheder Epigenetik Maternel hypomethyleringssyndrom Aldersrelateret ændring i X-kromosom reaktivering PKU og beslægtede tilstande Phenylketonuri (PKU) Co-faktor BH4 og smerteforskning Familiær Dopa-responsiv dystoni Nyt fra forskningen Publikationer 2014 2013 2012 2011 2010 2009 2008 2007 2006 Tidligere publikationer Links Genetisk rådgivning Information Arvelig cancer rådgivning Sjældne kromosomafvigelser Lokationsnummer Priser Links - Genetisk rådgivning Laboratoriet English Nye analysetilbud Rekvisitioner Priser Vejledninger og downloads Kvalitetspolitik Synsregisteret Øjenklinikken Rekvisitioner Selvbetjening Links Privatlivspolitik

Sidst opdateret: 16/11 2017
Publikationer 2015
  • Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation
    Addis, L. , Ahn, J. W. , Dobson, R. , Dixit, A. , Ogilvie, C. M. , Pinto, D. , Vaags, A. K. , Coon, H. , Chaste, P. , Wilson, S. , Parr, J. R. , Andrieux, J. , Lenne, B. , Tümer, Z. , Leuzzi, V. , Aubell, K. , Koillinen, H. , Curran, S. , Marshall, C. R. , Scherer, S. W. & 3 flere Strug, L. J., Collier, D. A. & Pal, D. K.
    sep. 2015 I : Human Mutation. 36, 9, s. 842-50 9 s.

  • Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach
    Aguiar, A. , Ahring, K. , Almeida, M. F. , Assoun, M. , Belanger Quintana, A. , Bigot, S. , Bihet, G. , Blom Malmberg, K. , Burlina, A. , Bushueva, T. , Caris, A. , Chan, H. , Clark, A. , Clark, S. , Cochrane, B. , Corthouts, K. , Dalmau, J. , Dassy, M. , De Meyer, A. , Didycz, B. & 61 flere Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A. M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., Ter Horst, N. M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van der Ploeg, L., van Rijn, M., van Spronsen, F. J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F. J. & Zweers, H.
    maj 2015 I : Molecular Genetics and Metabolism. 115, 1, s. 17-22 6 s.

  • Diagnostik og behandling af fenylketonuri
    Bayat, A., Møller, L. B. & Lund, A. M.
    16 feb. 2015 I : Ugeskrift for læger [online]. 177, 8, s. V07140383

  • A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD
    Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Nazaryan, L., Debes, N. M., Skov, L., Xie, G., Sun, W., Brøndum-Nielsen, K., Kuss, A. W., Chen, W. & Tümer, Z.
    28 feb. 2015 I : Psychiatry Research. 225, 3, s. 268-275 8 s.

  • Identification of new genes and genetic mechanisms Associated with Tourette syndrome
    Bertelsen, B
    . 2015 Grafisk – Københavns Universitet.
    Ph.d.-afhandling

  • Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study
    Bertelsen, B.,
    Oranje, B., Melchior, L., Fagerlund, B., Werge, T. M., Mikkelsen, J. D., Tümer, Z. & Glenthøj, B. Y.
    dec. 2015 I : NeuroMolecular Medicine. 17, s. 423-30

  • Is it possible to diagnose Rett syndrome before classical symptoms become obvious?: Review of 24 Danish cases born between 2003 and 2012
    Bisgaard, A-M., Schönewolf-Greulich, B., Ravn, K. & Rønde, G.
    nov. 2015 I : European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 19, 6, s. 679-87 9 s.

  • Cornelia de Lange Syndrome
    Boyle, M. I
    ., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z.
    2015 I : Clinical genetics. 572, 1, s. 2015 Nov 1;572(1):130-4.

  • Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
    Boyle, M. I., Jespersgaard, C., Nazaryan, L., Ravn, K., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z.
    1 nov. 2015 I : Gene. 572, 1, s. 130-4 5 s.

  • Response to Dylan Mordaunt and Alisha McLauchlan
    Boyle, M.
    & Tümer, Z.
    2015 I : Clinical Genetics. 88, 1 , s. 99–100

  • Genfejl er årsag til blindhed hos yngre børn og yngre voksne
    Brøndum-Nielsen, K.
    2015 Velux Fonden Årsskrift 2014 s. 98-101

  • Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion
    Chatron, N. , Haddad, V. , Andrieux, J. , Désir, J. , Boute, O. , Dieux, A. , Baumann, C. , Drunat, S. , Gérard, M. , Bonnet, C. , Leheup, B. , Till, M. , Rossi, M. , Flori, E. , Alembik, Y. , Stewart, H. , McParland, J. , Bernardini, L. , Castelluccio, P. , Roos, L. & 11 flere Tümer, Z., Fagan, K., Hackett, A., Bain, N., van Haeringen, A., Ruivenkamp, C., Benzacken, B., Sanlaville, D., Edery, P., Aboura, A. & Schluth-Bolard, C.
    25 feb. 2015 I : American Journal of Medical Genetics. Part A. 167, 5, s. 1008-17

  • A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature
    Cornelius, N., Bertelsen, B., Melchior, L., Nazaryan, L., Debes, N. M., Groth, C., Skov, L. & Tümer, Z.
    30 jul. 2015 I : Psychiatry Research. 228, 1, s. 179-81 3 s.

  • Partial USH2A deletions contribute to Usher syndrome in Denmark
    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B.
    dec. 2015 I : European journal of human genetics : EJHG. 23, 12, s. 1646-51 6 s.

  • Partial USH2A deletions contribute to Usher syndrome in Denmark
    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B.
    dec. 2015 . (European journal of human genetics : EJHG).

  • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
    Dondorp, W. , de Wert, G. , Bombard, Y. , Bianchi, D. W. , Bergmann, C. , Borry, P. , Chitty, L. S. , Fellmann, F. , Forzano, F. , Hall, A. , Henneman, L. , Howard, H. C. , Lucassen, A. , Ormond, K. , Peterlin, B. , Radojkovic, D. , Rogowski, W. , Soller, M. , Tibben, A. , Tranebjærg, L. & 3 flere van El, C. G., Cornel, M. C. & European Society of Human Genetics
    nov. 2015 I : European journal of human genetics : EJHG. 23, 11, s. 1438-50 13 s.

  • Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care
    Eggermann, T., Netchine, I., Temple, I. K., Tümer, Z., Monk, D., Mackay, D., Grønskov, K., Riccio, A., Linglart, A. & Maher, E. R.
    2015 I : Clinical epigenetics. 7, 1, s. 23

  • Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
    Eggermann, T., Perez de Nanclares, G., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J. G., Grønskov, K., Riccio, A., Linglart, A. & Netchine, I.
    20 nov. 2015 I : Clinical epigenetics. 7, s. 123

  • A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance
    Grønhøj Larsen, C., Gyldenløve, M., Jønch, A. E., Charabi, B. & Tümer, Z.
    2015 I : Case Reports in Otolaryngology. 2015, s. 683938

  • A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin
    Gundlund, A., Hansen, A. V., Pedersen, G. S., Villadsen, S. F., Mortensen, L. H., Brøndum-Nielsen, K. & Andersen, A-M. N.
    jul. 2015 I : Paediatric and perinatal epidemiology. 29, 4, s. 351-9 9 s.
  • Erratum: Emerging topics in FXTAS
    Hall, D. A., Birch, R. C., Anheim, M., Jønch, A. E., Pintado, E., O'Keefe, J. A., Trollor, J. N., Stebbins, G. T., Hagerman, R. J., Fahn, S., Berry-Kravis, E. & Leehey, M. A.
    2015 . (Journal of Neurodevelopmental Disorders).

  • Mottled Mice and Non-Mammalian Models of Menkes Disease
    Lenartowicz, M., Krzeptowski, W., Lipinski, P., Grzmil, P., Starzynski, R., Pierzchala, O. & Møller, L. B.
    2015 I : Frontiers in Molecular Neuroscience. 8, s. 72

  • The challenges of managing coexistent disorders with phenylketonuria: 30 cases
    MacDonald, A. , Ahring, K. , Almeida, M. F. , Belanger-Quintana, A. , Blau, N. , Burlina, A. , Cleary, M. , Coskum, T. , Dokoupil, K. , Evans, S. , Feillet, F. , Gizewska, M. , Gokmen Ozel, H. , Lotz-Havla, A. S. , Kamienska, E. , Maillot, F. , Lammardo, A. M. , Muntau, A. C. , Puchwein-Schwepcke, A. , Robert, M. & 9 flere Rocha, J. C., Santra, S., Skeath, R., Straczek, K., Trefz, F. K., van Dam, E., van Rijn, M., van Spronsen, F. & Vijay, S.
    dec. 2015 I : Molecular Genetics and Metabolism. 116, 4, s. 242-51 10 s.

  • Small amounts of functional ATP7A protein permit mild phenotype
    Møller, L. B.
    2015 I : Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 31, s. 173-7

  • Intraplantar injection of tetrahydrobiopterin induces nociception in mice
    Nasser, A., Ali, S., Wilsbech, S., Bjerrum, O. J. & Møller, L. B.
    1 jan. 2015 I : Neuroscience Letters. 584, s. 247-52 6 s.

  • Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort
    Nazaryan, L., Bertelsen, B., Padmanabhuni, S. S., Debes, N. M., LuCamp, Have, C. T. & Tümer, Z.
    30 aug. 2015 I : Psychiatry Research. 228, 3, s. 974-5 2 s.

  • Epilepsy in Rett syndrome--lessons from the Rett networked database
    Nissenkorn, A. , Levy-Drummer, R. S. , Bondi, O. , Renieri, A. , Villard, L. , Mari, F. , Mencarelli, M. A. , Lo Rizzo, C. , Meloni, I. , Pineda, M. , Armstrong, J. , Clarke, A. , Bahi-Buisson, N. , Mejaski, B. V. , Djuric, M. , Craiu, D. , Djukic, A. , Pini, G. , Bisgaard, A-M. , Melegh, B. & 6 flere Vignoli, A., Russo, S., Anghelescu, C., Veneselli, E., Hayek, J. & Ben-Zeev, B.
    apr. 2015 I : Epilepsia. 56, 4, s. 569-76 8 s.

  • A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
    Nyegaard, M. , Rendtorff, N. D. , Nielsen, M. S. , Corydon, T. J. , Demontis, D. , Starnawska, A. , Hedemand, A. , Buniello, A. , Niola, F. , Overgaard, M. T. , Leal, S. M. , Ahmad, W. , Wikman, F. , Petersen, K. , Crüger, D. G. , Oostrik, J. , Kremer, H. , Tommerup, N. , Frödin, M. , Steel, K. P. & 2 flere Tranebjærg, L. & Børglum, A. D.
    jul. 2015 I : P L o S Genetics. 11, 7, s. e1005386

  • Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile
    Pena, M. J., Almeida, M. F., van Dam, E., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., MacDonald, A., Robert, M. & Rocha, J. C.
    2015 I : Orphanet Journal of Rare Diseases. 10, 1, s. 162

  • Copper Metabolism, ATP7A and Menkes Disease
    Pierson, H., Lutsenko, S. & Tümer, Z.
    16 nov. 2015 eLS (Wiley Online Library). John Wiley & Sons Ltd
    Bidrag til bog/antologi

  • Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder
    Rajkumar, A. P., Christensen, J. H., Mattheisen, M., Jacobsen, I., Bache, I., Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., Tümer, Z., Mors, O. & Børglum, A. D. 2015 I : Bipolar Disorders (English Edition, Print). 17, 2, s. 205-11

  • Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
    Ravn, K., Schönewolf-Greulich, B., Hansen, R. M., Bohr, A-H., Dunø, M., Wibrand, F. & Østergaard, E. 2015 I : Molecular Genetics and Metabolism Reports. 3, s. 5-10

  • Case report a novel KERA mutation associated with cornea plana and its predicted effect on protein function
    Roos, L., Bertelsen, B., Harris, P., Bygum, A., Jensen, H., Grønskov, K. & Tümer, Z
    2015 I : BMC medical genetics. 16, s. 40

  • Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy
    Rönnbäck, C., Nissen, C., Almind, G. J., Grønskov, K., Milea, D. & Larsen, M. 19 sep. 2015 I : Acta Ophthalmologica. 93, 8, s. 762-66

  • 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome
    Sarri, C., Douzgou, S., Kontos, H., Anagnostopoulou, K., Tümer, Z., Grigoriadou, M., Petersen, M. B., Kokotas, H., Merou, K., Pandelia, E., Giouroukou, E., Papanikolaou, K., Côté, G. B. & Gyftodimou, Y.
    2015 I : Cytogenetic and Genome Research. 145, 1, s. 6-13 8 s.

  • Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark
    Schönewolf-Greulich, B., Dunø, M., Ravn, K., Brøndum-Nielsen, K. & Bisgaard, A-M.
    29 jun. 2015 I : Ugeskrift for laeger. 177, 27, s. V12140731

  • Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?
    Tümer, Z.

    2015 I : Case Reports in Neurological Medicine. 2015, s. e358605

  • When should social service referral be considered in phenylketonuria?
    van Rijn, M., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., Robert, M., Rocha, J. C. & MacDonald, A. mar. 2015 I : Molecular Genetics and Metabolism Reports. 2, s. 85-88