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Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Rasmussen MB, et al. Among authors: henriksen kf. J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062845
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N. Gilling M, et al. Among authors: henriksen kf. Eur J Hum Genet. 2008 Mar;16(3):312-9. doi: 10.1038/sj.ejhg.5201985. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18183041 Free article.
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Halgren C, et al. Among authors: henriksen kf. Clin Genet. 2012 Sep;82(3):248-55. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801163 Free PMC article.
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.
Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z. Jakobsen LP, et al. Among authors: henriksen kf. J Med Genet. 2007 Jun;44(6):381-6. doi: 10.1136/jmg.2006.046177. J Med Genet. 2007. PMID: 17551083 Free PMC article.
26 results