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Clinical utility gene card for: Angelman Syndrome.
Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B. Buiting K, et al. Among authors: kanber d. Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4. Eur J Hum Genet. 2015. PMID: 24896151 Free PMC article. No abstract available.
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K. Beygo J, et al. Among authors: kanber d. Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635951 Free PMC article.
Imprinting of RB1 (the new kid on the block).
Buiting K, Kanber D, Horsthemke B, Lohmann D. Buiting K, et al. Among authors: kanber d. Brief Funct Genomics. 2010 Jul;9(4):347-53. doi: 10.1093/bfgp/elq014. Epub 2010 Jun 15. Brief Funct Genomics. 2010. PMID: 20551090 Review.
Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.
Steenpass L, Kanber D, Hiber M, Buiting K, Horsthemke B, Lohmann D. Steenpass L, et al. Among authors: kanber d. PLoS One. 2013 Sep 3;8(9):e74159. doi: 10.1371/journal.pone.0074159. eCollection 2013. PLoS One. 2013. PMID: 24019952 Free PMC article.
32 results