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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorders. Monk D, et al. Among authors: beygo j. Epigenetics. 2018;13(2):117-121. doi: 10.1080/15592294.2016.1264561. Epub 2018 Jan 25. Epigenetics. 2018. PMID: 27911167 Free PMC article. Review.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: beygo j. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 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.
Evidence for anticipation in Beckwith-Wiedemann syndrome.
Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G. Berland S, et al. Among authors: beygo j. Eur J Hum Genet. 2013 Dec;21(12):1344-8. doi: 10.1038/ejhg.2013.71. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572028 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.
A familial disorder of altered DNA-methylation.
Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R. Caliebe A, et al. Among authors: beygo j. J Med Genet. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721835
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
45 results