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The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Among authors: beygo j. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A. Beygo J, et al. Hum Mol Genet. 2013 Feb 1;22(3):544-57. doi: 10.1093/hmg/dds465. Epub 2012 Oct 30. Hum Mol Genet. 2013. PMID: 23118352 Free PMC article.
Clinical phenotypes of MAGEL2 mutations and deletions.
Buiting K, Di Donato N, Beygo J, Bens S, von der Hagen M, Hackmann K, Horsthemke B. Buiting K, et al. Among authors: beygo j. Orphanet J Rare Dis. 2014 Mar 25;9:40. doi: 10.1186/1750-1172-9-40. Orphanet J Rare Dis. 2014. PMID: 24661356 Free PMC article. No abstract available.
Epigenetic germline mosaicism in infertile men.
Laurentino S, Beygo J, Nordhoff V, Kliesch S, Wistuba J, Borgmann J, Buiting K, Horsthemke B, Gromoll J. Laurentino S, et al. Among authors: beygo j. Hum Mol Genet. 2015 Mar 1;24(5):1295-304. doi: 10.1093/hmg/ddu540. Epub 2014 Oct 21. Hum Mol Genet. 2015. PMID: 25336341
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.
Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B, Ammerpohl O, Siebert R. Bens S, et al. Among authors: beygo j. Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20. Epigenomics. 2016. PMID: 27323310
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. 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.
45 results