Alfa map Site map Forside Udskriv E-mail Få teksten læst op
Søg
 
Gl. Landevej 7  -  2600 Glostrup  -  Tlf: 43260100  -  man-tor kl. 8.00-16.00, fre kl. 8.00-15.00
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
Forskning - Fragilt X publikationer
Kontakt: Karen Brøndum Nielsen

11.

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.


10. Madsen C, Grønskov K, Brøndum-Nielsen K, Jensen TG.
Normal RNAi response in human fragile fibroblasts.
BMC research notes 2009, 0,497916667

9.

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 Apr;53(4):790-3. Epub 2007 Jan 26.

 

8. Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K (2006) Screening for fragilt X-internationale erfaringer. Ugeskr Laeger. 2006 Oct 23;168(43):3704-9. Danish.

7. Nolin,SL, W T Brown, A Glicksman, G E Houck, Jr., A D Gargano, A Sullivan, V Biancalana, K Brondum-Nielsen, H Hjalgrim, E Holinski-Feder, F Kooy, J Longshore, J Macpherson, J L Mandel, G Matthijs, F Rousseau, P Steinbach, M L Vaisanen, H von Koskull, S L Sherman, 2003, Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am.J.Hum.Genet., v. 72, p. 454-464.

6. Hjalgrim H, Hahnemann JM, Kjær I, Brøndum-Nielsen K. Absence of nasal bone and detection of trisomy 21. The Lancet. 2002 April Vol. 359 No. 9314: 1343-1344

5. Larsen LA, Armstrong JS, Gronskov K, Hjalgrim H, Macpherson JN, Brondum-Nielsen K, Hasholt L, Norgaard-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 Jul 17;93(2):99-106.

4. Larsen LA, Armstrong JS, Gronskov K, Hjalgrim H, Brondum-Nielsen K, Hasholt L, Norgaard-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 Oct-Nov;7(7):771-7

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

2. Gronskov-K; Hjalgrim-H; Bjerager-MO; Brondum-Nielsen-K  (1997) Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. Am-J-Hum-Genet. Oct; 61(4): 961-967

1. Larsen-LA; Gronskov-K; Norgaard-Pedersen-B; Brondum-Nielsen-K; Hasholt-L; Vuust-J (1997) High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum-Genet. Oct; 100(5-6): 564-8

Forskning

 

Yderligere information

Projekter og forskere

 

Publikationer