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Sidst opdateret: 16/11 2017
Publikationer 2011
Kontakt: Webmaster

Videnskabelige publikationer

  • Almind GJ, Gronskov K, Milea D, Larsen M, Brondum-Nielsen K, Ek J.
    Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.
    BMC Med Genet. 2011 Apr 4;12:49.

  • Bertelsen B, Tümer Z*, Ravn K*
    Three New Loci for Determining X Chromosome Inactivation Patterns.
    J Mol Diagn. 2011 Sep;13(5):537-40. Epub 2011 Jul 2. (*Shared last authorship)

  • Boonen SE, Hoffmann AL, Donnai D, Tümer Z, Ravn K.
    Diploid/triploid mosaicism: A rare event or an under-diagnosed syndrome?
    Eur J Med Genet. 2011 May-Jun;54(3):374-5. Epub 2011 Jan 18.

  • Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z.
    Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
    Am J Med Genet A. 2011 Jan;155A:203-206

  • de Fine Olivarius N, Siersma V, Almind GJ, Nielsen NV.
    Prevalence and progression of visual impairment in patients newly diagnosed with clinical type 2 diabetes: a 6-year follow up study.
  • Ekelund CK, Petersen OB, Skibsted L, Kjaergaard S, Vogel I, Tabor A; Danish Fetal Medicine Research Group including Brøndum-Nielsen K.
    First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13.
    Ultrasound Obstet Gynecol. 2011 Aug;38(2):140-4. doi: 10.1002/uog.8929

  • Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
    Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
    Am J Hum Genet. 2011 Mar 11;88(3):382-90.

  • Gilling M, Ullmann R, Kristoffersson U, Møller M, Henriksen KF, Bugge M, Kalscheuer VM, Lundsteen C, Tümer Z, Tommerup N (2011).
    Biparental inheritance of chromosomal and genomic abnormalities in male twins with mental retardation and autistic traits.
    Eur J Med Genet. 2011 Jul-Aug;54(4):e383-8. Epub 2011 Mar 21.

  • Gourdon P, Liu X-Y, Skjørringe T, Morth JP, Møller LB, Pedersen BP, Nissen P.
    Crystal structure of a copper-transporting PIB-type ATPase.
    Nature. 2011 Jun 29;475(7354):59-64. doi: 10.1038/nature10191.

  • Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H
    A nonsense mutation in FMR1 causing fragile X syndrome.
    Eur J Hum Genet. 2011 Apr;19(4):489-91. Epub 2011 Jan 26.

  • Grønskov K, Poole R L, Hahnemann J M D, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple I K , Boonen S E ,Mackay D
    Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
    J Med Genet. 2011 May;48(5):308-11. Epub 2011 Jan 28.´

  • 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. 2011 Feb;26(2):142-6. Epub 2010 Sep 7

  • Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS (2011)
    High frequency of rare copy number variations in patients with structural brain malformations, intellectual disabilities and epilepsy.
    Hum Mutat. 2011 Dec;32(12):1427-35. doi: 10.1002/humu.21585. Epub 2011 Sep 23.


  • MacDonald A, Ahring K, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Bélanger-Quintana B.
    Adjusting diet with sapropterin in phenylketonuria: what factors should
    be considered?
    British Journal of Nutrition 2011 Jul;106(2):175-82.

  • Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, Toomes C, Metlapally R, Li YJ, Tran-Viet KN,Malecaze F, Calvas P, Rosenberg T, Guggenheim JA, Young TL.
    Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.
    Mol Vis, 2011;17:2118-28. Epub 2011 Aug 10

  • Michaelides M, Rha J, Dees EW, Baraas RC, Wagner-Schuman ML, Mollon JD, Dubis AM, Andersen MK, Rosenberg T, Larsen M, Moore AT, Carroll J.
    Integrity of the Cone Photoreceptor Mosaic in Oligocone Trichromacy. Invest Ophthalmol Vis Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4757-64. [Epub ahead of print Mar 24].

  • Mogensen M, Skjorringe T, Kodama H, Silver K, Horn N, Moller LB.
    Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour.
    Orphanet J Rare Dis. 2011 Nov 10;6(1):73. [Epub ahead of print]

  • Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, Kaler SG.
    Diagnosis of Copper Transport Disorders.
    Curr Protoc Hum Genet. 2011 Jul;Chapter 17:Unit17.9

  • Møller LB, Horn N, Jeppesen TD, Vissing J, Wibrand F, Jennum P, Ott P.
    Clinical presentation and mutations in Danish patients with Wilson Disease
    Eur J Hum Genet In press 2011 May 25. [Epub ahead of print]

  • Nytofte NS, Serrano MA, Monte MJ, Gonzalez-Sanchez E, Tümer Z, Ladefoged K, Briz O, Marin JJG.
    A homozygous nonsense mutation (c.214C>A) in biliverdin reduc-tase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of chole-stasis.
    J Med Genet. 2011 Apr;48(4):219-25. Epub 2011 Jan 28.

  • Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T.
    A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
    Mol Vis. 2011;17:1485-92.[ Epub 2011 Jun 4]

  • Parr JR, Le Couteur A, Baird G, Rutter M, Pickles A, Fombonne E, Bailey AJ; International Molecular Genetic Study of Autism Consortium (IMGSAC) Members including Brøndum-Nielsen K.
    Early developmental regression in autism spectrum disorder: evidence from an international multiplex sample.
    J Autism Dev Disord. 2011 Mar;41(3):332-40.

  • Poulsen L, Søe MJ, Møller LB, Dufva M.
    Investigation of Parameters that Affect the Success Rate of Microarray-Based Allele-Specific Hybridization Assays.
    PLoS One. 2011 Mar 22;6(3):e14777

  • Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH
    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.
    Orphanet J Rare Dis 2011 Aug 30;6(1):58. [Epub ahead of print]

  • Roende G, Ravn K, Fuglsang K, Andersen H, Bieber Nielsen J, Brøndum-Nielsen K, Jensen JE.
    DXA measurements in rett syndrome reveal small bones with low bone mass.
    J Bone Miner Res. 2011 Sep;26(9):2280-6. doi: 10.1002/jbmr.423.

  • 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. 2011 Apr;69(4):359-64.

  • Sarri C, Douzgou S, Gyftodimou J, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB
    Complex Distal 10q Rearrangement in a Mildly Mentally Retarded Girl. Follow up of the Case and Review of the Literature of Non-acrocentric Satellited Chromosomes.
    Am J Med Genet A. 2011 Nov;155(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30.

  • Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65.
    Ophthalmology. 2011 May;118(5):888-94. Epub 2011 Jan 6.

  • Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Rendtoff N, Tranebjærg L, Brøndum-Nielsen K, Tümer Z
    Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
    Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3.

  • Schönewolf-Greulich B, Skibsted L, Maroun LL, Lund AM, Brøndum-Nielsen K.
    Increased nuchal translucency in osteogenesis imperfecta [Article in Danish]
    Ugeskr Laeger. 2011 Mar 28;173(13):973-4. Danish

  • Skørring T*, Tümer Z*, Møller LB.
    Splice Site Mutations in the ATP7A Gene.
    PLoS One. 2011 Apr 11;6(4):e18599

  • Skytte AB, Crüger D, Gerster M, Laenkholm AV, Lang C, Brøndum-Nielsen K, Andersen M, Sunde L, Kølvra S, Gerdes AM.
    Breast cancer after bilateral risk-reducing mastectomy.
    Clin Genet. 2011 May;79(5):431-7. doi: 10.1111/j.1399-0004.2010.01604.x. Epub 2011 Jan 4.

  • Slidsborg C, Forman JL, Rasmussen S, Jensen H, Nissen KR, Jensen PK, Bangsgaard R, Fledelius HC, Greisen G, la Cour M.
    A new risk-based screening criterion for treatment-demanding retinopathy of prematurity in Denmark.
    Pediatrics. 2011 Mar;127(3):e598-606. Epub 2011 Feb 14.

  • Tümer Z, Klomp G.
    Clinical utility gene card for: Menkes Disease.
    Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.56. Epub 2011 Apr 13.

  • Weisschuh N, De Baere E, Wissinger B, Tümer Z.
    Clinical utility gene card for: Axenfeld-Rieger syndrome.
    Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.163. Epub 2010 Oct 13.

  • Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S.
    Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
    Hum Mutat, 2011;32(12):1398-406

  • Zschocke J, Haverkamp T, Møller LB
    Clinical utility gene card for: Phenylketonuria
    Eur J Hum Genet 14 September 2011; doi: 10.1038/ejhg.2011.172

* Shared first authorship

Populærvidenskabelige publikationer

  • Melchior L, Tümer Z (2011)
    Genetik af Gilles de la Tourette Syndrom in Tics, Grimasser og Sære Ord – En bog om Tourettes syndrom (red. Kerstin J von Plessen, Per Hove Thomsen), Psykologisk Forlag A/S