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Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Among authors: hjalgrim h. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.
Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.
Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Macpherson JN, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Larsen LA, et al. Among authors: hjalgrim h. Am J Med Genet. 2000 Jul 17;93(2):99-106. doi: 10.1002/1096-8628(20000717)93:2<99::aid-ajmg4>3.0.co;2-w. Am J Med Genet. 2000. PMID: 10869110
A nonsense mutation in FMR1 causing fragile X syndrome.
Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H. Grønskov K, et al. Among authors: hjalgrim h. Eur J Hum Genet. 2011 Apr;19(4):489-91. doi: 10.1038/ejhg.2010.223. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267007 Free PMC article.
Aspects of skeletal development in fragile X syndrome fetuses.
Hjalgrim H, Fisher Hansen B, Brondum-Nielsen K, Nolting D, Kjaer I. Hjalgrim H, et al. Am J Med Genet. 2000 Nov 13;95(2):123-9. doi: 10.1002/1096-8628(20001113)95:2<123::aid-ajmg6>3.0.co;2-u. Am J Med Genet. 2000. PMID: 11078561
Screening of the ARX gene in 682 retarded males.
Grønskov K, Hjalgrim H, Nielsen IM, Brøndum-Nielsen K. Grønskov K, et al. Among authors: hjalgrim h. Eur J Hum Genet. 2004 Sep;12(9):701-5. doi: 10.1038/sj.ejhg.5201222. Eur J Hum Genet. 2004. PMID: 15199382
470 results