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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.
9q Subtelomeric deletion syndrome with diaphragmatic hernia.
Klitten LL, Tommerup N, Hjalgrim H, Møller RS. Klitten LL, et al. Among authors: hjalgrim h. Am J Med Genet A. 2009 May;149A(5):1086-8. doi: 10.1002/ajmg.a.32823. Am J Med Genet A. 2009. PMID: 19396830 No abstract available.
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
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: hjalgrim h. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587
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.
482 results