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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
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
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
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.
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K. Sogaard M, et al. Among authors: hjalgrim h. BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21. BMC Med Genet. 2005. PMID: 15904506 Free PMC article.
482 results