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Sidst opdateret: 16/11 2017
Publikationer 2010
Kontakt: Webmaster

Videnskabelige publikationer

  • Ahring KK.
    Large neutral amino acids in daily practice.
    J Inherit Metab Dis. 2010 Mar 19. [Epub ahead of print]

  • Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Macdonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M.
    Blood phenylalanine control in phenylketonuria: a survey of 10 European centres.
    Eur J Clin Nutr. 2010 Dec 1. [Epub ahead of print]

  • Bloch SB, Bedda A, Hadi AMA, Larsen M.
    Contraction of occult choroidal neovascular membrane and rupture of the retinal pigment following verteporfin and bevacizumab treatment.
    Acta Ophthalmol. 2010 Nov 23. doi: 10.1111/j.1755-3768.2010.02023.x. [Epub ahead of print]

  • Bloch SB, Larsen M.
    Fibrosis of extramacular angioid streaks following ranibizumab treatment of subfoveal choroidal neovascularization.
    Acta Ophthalmol. 2010 Mar 8. [Epub ahead of print]

  • Bremer A, Giacobini M, Nordenskjold M, Brøndum-Nielsen K, Mansouri M, Dahl N, Anderlid B, Scoumans. Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation dependent probe amplification.
    Am J Med Genet 2010, 153b;280-285

  • Dad S, Ostergaard E, Thykjær T, Albrectsen A, Ravn K, Rosenberg T, Møller LB.
    Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.
    Clin Genet. 2010 Oct;78(4):388-97

  • Drobnjak D, Taarnhøj NCBB, Mitchell P, Wang JJ, Tan A, Kessel L, Hougaard JL, Sørensen TIA, Larsen M.
    Heritability of optic disc diameters: a twin study.
    Acta Ophthalmol. 2010 Jul 16. [Epub ahead of print]´

  • Grau T, Artemyev N, Rosenberg T, Dollfus H, Haugen O, Sener C, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S.
    Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
    Hum Mol Genet. 2010 Dec 1. [Epub ahead of print]

  • Hjortshøj TD, Grønskov K, Philip AR, Nishimura VY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Bardet-biedl syndrome in Denmark- report of 13 novel sequence variations in six genes.
    Hum Mutat. 2010 Apr;31(4):429-36

  • Holfort SK, Jackson GR, Larsen M.
    Dark adaptation during transient hyperglycemia in type 2 diabetes.
    Exp Eye Res. 2010 Nov;91(5):710-4. Epub 2010 Aug 21.


  • Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.
    Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
    Eur J Hum Genet. 2010 Aug;18(8):872-80. Epub 2010 Feb 24.

  • Kallenbach K, Sander B, Tsakiri A, Wanscher B, Fuglø D, Larsen M, Larsson H, Frederiksen JL.
    Neither retinal nor brain atrophy can be shown in patients with isolated unilateral optic neuritis at the time of presentation.
    Mult Scler. 2011 Jan;17(1):89-95. Epub 2010 Sep 16.

  • Karam PE, Daher RT, Moller LB, Mikati MA.
    Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
    J Child Neurol. 2010 Sep 7. [Epub ahead of print]

  • Kessel L, Johnson L, Arvidsson HS, Larsen M.
    The Relationship between Body and Ambient Temperature and Corneal Temperature.
    Invest Ophthalmol Vis Sci 2010 Jul 29. [Epub ahead of print]

  • Klitten LL, Møller RS, Ravn K, Hjalgrim H, Tommerup N.
    Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
    Eur J Hum Genet. 2011 Jan;19(1):1-2. Epub 2010 Sep 1.

  • Laszlo A, Endreffy E, Tümer Z, Horn N, Szabo.
    Molecular Genetic Mutation Analysis in Menkes Disease with Prenatal Diagnosis.
    Ideggyogy Sz. 2010 Jan 30;63(1-2):48-51

  • Massin P, Bandello F, Garweg JG, Hansen LL, Harding SP. Larsen M, Mitchell P, Sharp D, Wolf-Schnurrbusch UEK, Gekkieva M, Weichselberger A, Wolf S.
    Safety and efficacy of ranibizumab in diabetic macular edema (RESOLVE study): a 12-month, randomized, controlled, double-masked, multicentre phase II study.
    Diabetes Care. 2010 Nov;33(11):2399-405.

  • Metlapally R, Ki CS, Li YJ, Tran-Viet KN, Abbott D, Malecaze F, Calvas P, Mackey DA, Rosenberg T, Paget S, Guggenheim JA, Young TL.
    Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.
    Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4476-9. Epub 2010 Apr 30.

  • Munch IC, Ek J, Kessel L, Sander B, Almind GJ, Brondum-Nielsen K, Linneberg A, Larsen M. Small Hard Macular Drusen and Peripheral Drusen: Associations with AMD Genotypes in the Inter99 Eye Study
    Invest Ophthalmol Vis Sci. 2010 May;51(5):2317-21. Epub 2009 Dec 10

  • Munch IC, Larsen M, Kessel L, Borch-Johnsen K, Lund-Andersen H, Glümer C.
    Cumulative Glycemia and Microangiopathy in Subjects with Impaired Glucose Regulation in the Inter99 Study.
    Diabetologia. 2010 Dec 29. [Epub ahead of print]

  • Nielsen JB, Nielsen KE, Güttler F.
    Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
    J Inherit Metab Dis 2010, 33:9–16

  • Olesen C, Agergaard P, Boers M, Farholt S, Heilman CJ, Hvidkjaer L, Kristensen K, Lauritsen MB, Lunding J, Nielsen BW, Skovby F, Thrane N, Vogel I, Østergaard JR.
    22q11 deletion syndrome.
    Ugeskr Laeger. 2010 Mar 29;172(13):1038-46. [Article in Danish]

  • Ostergaard E, Batbayli M, Duno M, Vilhelmsen K, Rosenberg T.
    Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
    J Med Genet. 2010 Oct;47(10):665-9. Epub 2010 Aug 30

  • Ostri S, Lund-Andersen H, Sander B, Hvidt-Nielsen D, Larsen M.
    Bilateral diabetic papillopathy and metabolic control.
    Ophthalmology. 2010 Nov;117(11):2214-7. Epub 2010 Jun 16.

  • Pryds A, Sander B, Larsen M.
    Characterization of subretinal fluid leakage in central serous chorioretinopathy.
    Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5853-7. Epub 2010 May 26.

  • Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
    Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
    Eur J Pediatr. 2010 Aug;169(8):941-9. Epub 2010 Feb 23

  • Roende G, Ravn K, Fuglsang K, Andersen H, Vestergaard A, Brøndum-Nielsen K, Jensen JE, Nielsen JB.
    Patients with Rett syndrome sustain low-energy fractures.
    Pediatr Res. 2010 Dec 20. [Epub ahead of print]

  • Rosenberg T, Roos B, Johnsen T, Bech N, Scheetz TE, Larsen M, Stone EM, Fingert JH.
    Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.
    Mol Vis. 2010 Dec 9;16:2659-68

  • Sehested LT, Møller RS, Bache I, Andersen NB, Ullmann R, Tommerup N, Tümer Z.
    Deletion of 7q34-q36.2 in patients with mental retardation, language delay, primary amenorrhea and dysmorphic features.
    Am J Med Genet A. 2010 Dec;152A(12):3115-9

  • Schatz P, Bitner H, Sander B, Holfort SK, Andreasson S, Larsen M, Sharon D.
    Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
    Invest Ophthalmol Vis Sci. 2010 Apr 7. [Epub ahead of print].

  • Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T.
    Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
    Retina. 2010 Nov-Dec;30(10):1704-13

  • Schönewolf-Greulich B, Skibsted L, Maroun LL, Lund AM, Brøndum-Nielsen K.
    Forstørret nakkefold kan ses ved osteogenesis imperfecta.
    Ugeskrift for læger 2010 Oct. 4. Epub ahead of print

  • Skytte AB, Gerdes AM, Andersen MK, Sunde L, Brøndum-Nielsen K, Waldstrøm M, Kølvrå S, Cruger D.
    Risk reducing mastectomy and salpinhoophorectomy in unaffected BRCA mutation carriers- uptake and timing.
    Clin Genet. 2010 Apr;77(4):342-9. Epub 2010 Jan 6

  • Soliman W, Hasler P, Sander B, Larsen M.
    Local retinal sensitivity in relation to specific retinopathy lesions in diabetic macular oedema.
    Acta Ophthalmol. 2010 Aug 31. [Epub ahead of print]. PMID: 20809906.

  • Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent L-J, van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA.
    Haplo-insufficiency of TAB2 causes congenital heart defects in humans.
    Am J Hum Genet. 2010 Jun 11;86(6):839-49. Epub 2010 May 20.

  • Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, Molven A, Njølstad PR.
    Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
    Hum Genet. 2010 Jan;127(1):55-64. Epub 2009 Sep 17

  • Tümer Z, Møller LB (2010)
    Menkes disease.
    Eur J Hum Genet. 2010 May;18(5):511-8. Epub 2009 Nov 4. Review

  • Verkerk J, Schot R, van Waterschoot L, Douben H, Poddighe P, Lequin M, de Vries LS, Terhal P, Hahnemann J, de Coo I, de Wit M, Wafelman L, Garavelli L, Dobyns W, Van der Spek P, de Klein A, Mancini G.
    Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus.
    Am J Med Genet A. 2010 Jun;152A(6):1488-97

  • Weisschuh N, De Baere E, Wissinger B, Tümer Z
    Clinical utility gene card for: Axenfeld Rieger syndrome.
    Eur J Hum Genet. 2010 Oct 13.. [Epub ahead of print]

Bøger

  • Rosenberg T, Schwartz M.
    Ocular Albinism, X-Linked .
    In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
    2004 Mar 12 [updated 2006 May 22].