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Page 1
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Thienpont B, et al. Among authors: tommerup n. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493459 Free PMC article.
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller RS, Ullmann R, He J, Papadopoulos N, Tommerup N, Larsen LA. Zhang L, et al. Among authors: tommerup n. Eur J Hum Genet. 2009 Aug;17(8):1010-8. doi: 10.1038/ejhg.2008.269. Epub 2009 Jan 28. Eur J Hum Genet. 2009. PMID: 19172993 Free PMC article.
Haploinsufficiency of ARHGAP42 is associated with hypertension.
Fjorder AS, Rasmussen MB, Mehrjouy MM, Nazaryan-Petersen L, Hansen C, Bak M, Grarup N, Nørremølle A, Larsen LA, Vestergaard H, Hansen T, Tommerup N, Bache I. Fjorder AS, et al. Among authors: tommerup n. Eur J Hum Genet. 2019 Aug;27(8):1296-1303. doi: 10.1038/s41431-019-0382-9. Epub 2019 Mar 21. Eur J Hum Genet. 2019. PMID: 30903111 Free PMC article.
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. Erdogan F, et al. Among authors: tommerup n. J Med Genet. 2008 Nov;45(11):704-9. doi: 10.1136/jmg.2008.058776. Epub 2008 Aug 19. J Med Genet. 2008. PMID: 18713793
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A. Minocherhomji S, et al. Among authors: tommerup n. Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1. Hum Mol Genet. 2014. PMID: 24986922 Free PMC article.
347 results