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Sidst opdateret: 16/11 2017
Karen Grønskov - Curriculum vitae and Publications

Research Interests

Identifying and characterization of genes involved in development of the eye and genes causing eye diseases.
Investigation of imprinted genes involved in growth and development, with focus on evaluation of specific patient cases and thereby identifying the underlying genetic mechanisms.

Education

1995  

Phd (molecular biology) Copenhagen University, Faculty of Science, Copenhagen, Denmark. Hagedorn Research Institute.
 Thesis: “Investigation of the insulin and IGF-1 receptor tyrosine kinases using mutated receptors”

1991  

MSc (biochemistry), Copenhagen University, Faculty of Science, Copenhagen, Denmark. Insitute of Genetics A.
Thesis: ”Genetic investigation of suppressor of black 31”

Employment

2000 -       

Senior Scientist, The Kennedy Center

1995-2000  

Research Scientist, John F. Kennedy Instituttet

1991-1995  

Phd student, Hagedorn Research Institute, Novo Nordisk

Oral presentations

  • Bardet-Biedl syndrome, DSMG, Copenhagen
  • DNA arrays, Bioanalytikeren, Copenhagen
  • The ARX gene, Syndrome conference, Copenhagen
  • Investigation of the FMR1 protein using yeast three hybrid system, DSMG, Copenhagen
  • SSCP analysis of the FMR1 gene, 8th International workshop on Fragile X syndrome & X-linked mental retardation, Picton Ontario, Canada
  • Genetics in attention deficit hyperactivity disorder, Danish Neuropediatric Society, Copenhagen

Poster presentation

  • 25 poster presentations at scientific meetings

Teaching and scientific supervision

  • Teaching genetic at A-course for ophthalmologists.
  • Supervision of Erasmus exchange students:
    Methods for investigation CYP1B1 mutations in PCG patients – Alba Redo.
  • Characterization of the CGG repeat of the FMR1 gene in normal and premutated males – Judith Armstrong
  • GJB2 and A1555G mutations in hearing impairment – Barbara Montserrat

PhD projects

  • Bardet-Biedl Syndrome – Tina Duelund Hjortshøj, Faculty of Health Science, University of Copenhagen. PhD defence October 2007 (Research supervisor)
  • Multiple hypomethylation of maternally imprinted genes: A new hypomethylation syndrome – Susanne E Boonen, Faculty of Health Science, University of Copenhagen, enrolment August 2008 (research supervisor)
  • Understanding the underlying genetic mechanisms in anophthalmia and microphthalmia – Laura Roos, Faculty of Health Science, University of Copenhagen, enrolment April 2009 (research supervisor)
  • Molecular genetic investigation of OPA1 in Dansih patients with autosomal dominant opticus atrophy – Gitte Juul Almind, Faculty of Health Science, University of Copenhagen, enrolment January 2009 (research supervisor)

Publications

55. 

Jønch AE, Grønskov K, Carlsen Lunding JM, Nielsen JE, Brøndum-Nielsen K.
Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders.
Ugeskr Laeger. 2014 Jun 23;176(26). pii: V02140099. [Article in Danish]

54. 

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

53. 

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.

52. 

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 Mar 11. doi: 10.1111/aos.12378. [Epub ahead of print]

51. 

Grønskov K, Brøndum-Nielsen K, Lorenz B, Preising MN
Clinical utility gene card for: Oculocutaneous albinism
European Journal of Human Genetics Epub ahead of print 12 February 2014; doi: 10.1038/ejhg.2013.307

50. 

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. 2013 Sep 21. [Epub ahead of print]

 

49. 

Roos L, Fang M, Dali CI, 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. 2013 Sep 11. doi: 10.1111/cge.12277. [Epub ahead of print]

48.   

Brøndum-Nielsen K, Jensen H, Timshel S, Grønskov K, Larsen M.
Genetic testing and counselling in inherited eye disease.
Ugeskr Laeger. 2013 Sep 2;175(36):2031-4. [Article in Danish]

 

47. 

Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Ostergaard JR.
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis.
Am J Med Genet A. 2013 Sep;161(9):2197-203. doi: 10.1002/ajmg.a.36058. Epub 2013 Aug 2.

 

46.   

Hertz JM, Gerdes AM, Grønskov K, Thomassen M, Vogel I.
Genome sequencing--clinical use. [Article in Danish]
Ugeskr Laeger. 2013 Mar 18;175(12):818.

 

45. 

Grønskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Møllgård K, Stemple DL, Rosenberg T.
Mutations in C10orf11, Encoding a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism.
Am J Hum Genet. 2013 Feb 5. pii: S0002-9297(13)00037-2. doi: 10.1016/j.ajhg.2013.01.006. [Epub ahead of print]

 

44. 

Boonen SE, Mackay DJ, Hahnemann JM, Docherty L, Grønskov K, Lehmann A, Larsen LG, Haemers AP, Kockaerts Y, Dooms L, Vu DC, Ngoc CT, Nguyen PB, Kordonouri O, Sundberg F, Dayanikli P, Puthi V, Acerini C, Massoud AF, Tümer Z, Temple IK.
Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up.
Diabetes Care. 2013 Mar;36(3):505-12. Epub 2012 Nov 12.

 

43. 

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.

 

42. 

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. [Epub ahead of print]

41. 

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.

40. 

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]

39. 

Boonen SE, Hahnemann JMD, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K.
No evidence of 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.

38. 

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.

 

37. 

Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, LuCamp, Gronskov K, Brondum-Nielsen K. A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. Neurobiol Aging. 2011 Aug 25. [Epub ahead of print]

36. 

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(1):49. [Epub ahead of print]

35. 

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 Jan 28. [Epub ahead of print]


34. 

Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H
A nonsense mutation in FMR1 causing fragile X syndrome.
Eur J Hum Genet. 2011 Jan 26. [Epub ahead of print]

33. 

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

32. 

Riise R, D'haene B, De Baere E, Grønskov K, Brøndum-Nielsen K. Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203. Acta Ophthalmol. 2009;87:923

31. 

Madsen C, Grønskov K, Brøndum-Nielsen K, Jensen TG. Normal RNAi response in human fragile x fibroblasts. BMC Res Notes. 2009; 9:177

30. 

Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V,Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ,  Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet. 2009; 17:517-524

29. 

Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe  Islands. Br J Ophthalmol. 2009; 93:409-13

28. 

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2009; 50:1058-1064

27. 

Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. Mol Cytogenet. 2009; 17:6

26. 

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A. 2008; 146A:517-520

25. 

Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare  Dis. 2007; 2:43

24. 

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K, Olsen JH. Risk for  cancer in patients with Bardet-Biedl syndrome and their relatives. Am J Med Genet A. 2007; 143A:1699-1702

23. 

Dahl C, Grønskov K, Larsen LA, Guldberg P, Brøndum-Nielsen K. A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome. Clin Chem. 2007; 53:790-793

22. 

Boonen SE, Grønskov K, Brøndum-Nielsen K. [Fragile X chromosomes and fragile  X syndrome]. Ugeskr Laeger. 2006; 168:3727-3728. Danish

21. 

Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K. [Screening for fragile X syndrome. International experiences]. Ugeskr Laeger. 2006; 168:3704-3709. Review. Danish

20. 

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, AvrahamKB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005; 77:945-957

19. 

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K. [Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of  molecular mechanisms]. Ugeskr Laeger. 2005; 167:2394-2398. Review. Danish

18. 

Grønskov K, Hjalgrim H, Nielsen IM, Brøndum-Nielsen K. Screening of the ARX gene in 682 retarded males. Eur J Hum Genet. 2004; 12:701-705

17. 

Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. Genet Test. 2004; 8:181-184

16. 

Østergaard E, Montserrat-Sentis B, Grønskov K, Brøndum-Nielsen K. The A1555G  mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin Genet. 2002; 62:303-305

15. 

Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol. 2002; 65:101-108

14. 

Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye  T, Brøndum-Nielsen K, Rosenberg T. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet. 2001; 109:11-18

13. 

Jacobsen SD, Gronskov K, Brondum-Nielsen K, Parving A. Is there a relationship between U-shaped audiograms and mutations in connexin 26? Scand Audiol. 2001; 30:184-188

12. 

Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Macpherson JN, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles. Am J Med Genet. 2000; 93:99-106

11. 

Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB.  Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat. 2000; 16:7-12

10. 

Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia. Eur J Hum Genet. 1999; 7:771-777

9. 

Grønskov K, Rosenberg T, Sand A, Brøndum-Nielsen K. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet. 1999; 7:274-286

8. 

Hjalgrim H, Grønskov K, Brøndum-Nielsen K. [Fragile X syndrome. Diagnosis, genetics and clinical findings]. Ugeskr Laeger. 1998; 160:5330-5334. Review. Danish

7. 

Grønskov K, Hallberg A, Brøndum-Nielsen K. Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations. Hum Genet. 1998; 102:440-445

6. 

Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K. Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. Am J Hum Genet. 1997; 61:961-967

5. 

Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K, Hasholt L, Vuust J. High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum Genet. 1997; 100:564-568

4. 

De Meyts P, Christoffersen CT, Ursø B, Wallach B, Grønskov K, Yakushiji F, Shymko RM. Role of the time factor in signaling specificity: application to mitogenic and metabolic signaling by the insulin and insulin-like growth factor-I receptor tyrosine kinases. Metabolism. 1995; 44:2-11. Review

3. 

De Meyts P, Wallach B, Christoffersen CT, Ursø B, Grønskov K, Latus LJ, Yakushiji F, Ilondo MM, Shymko RM. The insulin-like growth factor-I receptor. Structure, ligand-binding mechanism and signal transduction. Horm Res.1994; 42:152-169. Review

2. 

Hansen T, Bjørbaek C, Vestergaard H, Grønskov K, Bak JF, Pedersen O. Expression of insulin receptor spliced variants and their functional correlates in muscle from patients with non-insulin-dependent diabetes mellitus. J Clin Endocrinol Metab. 1993; 77:1500-1505

1. 

Grønskov K, Vissing H, Shymko RM, Tornqvist H, De Meyts P. Mutation of arginine 86 to proline in the insulin receptor alpha subunit causes lack of transport of the receptor to the plasma membrane, loss of binding affinity and a constitutively activated tyrosine kinase in transfected cells. Biochem Biophys Res Commun. 1993; 192:905-911