41. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. (June 2016) Authors: Bens, Susanne; Kolarova, Julia; Beygo, Jasmin; Buiting, Karin; Caliebe, Almuth; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Prawitt, Dirk; Thiele-Schmitz, Susanne; Begemann, Matthias; Enklaar, Thorsten; Gutwein, Jana; Haake, Andrea; Paul, Ulrike; Richter, Julia; Soellner, Lukas; Vater, Inga;... Journal: Epigenomics Issue: Volume 8:Number 6(2016) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
42. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Issue 2 (1st February 2018) Authors: Monk, David; Morales, Joannella; den Dunnen, Johan T.; Russo, Silvia; Court, Franck; Prawitt, Dirk; Eggermann, Thomas; Beygo, Jasmin; Buiting, Karin; Tümer, Zeynep Journal: Epigenetics Issue: Volume 13:Issue 2(2018) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
43. Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction. Issue 2 (30th June 2022) Authors: Eggermann, Thomas Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
44. Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients. Issue 6 (11th August 2018) Authors: Eggermann, Thomas; Ledig, Susanne; Begemann, Matthias; Elbracht, Miriam; Kurth, Ingo; Wieacker, Peter Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 6(2018) Page Start: 1225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
45. Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers. (January 2019) Authors: Soellner, Lukas; Kraft, Florian; Sauer, Sabrina; Begemann, Matthias; Kurth, Ingo; Elbracht, Miriam; Eggermann, Thomas Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
46. Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database. Issue 3 (11th January 2018) Authors: Tümer, Zeynep; López‐Hernández, Julia Angélica; Netchine, Irène; Elbracht, Miriam; Grønskov, Karen; Gede, Lene Bjerring; Sachwitz, Jana; den Dunnen, Johan T.; Eggermann, Thomas Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
47. The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome. Issue 1 (8th September 2006) Authors: Schönherr, Nadine; Meyer, Esther; Roos, Andreas; Schmidt, Angela; Wollmann, Hartmut A; Eggermann, Thomas Journal: Journal of medical genetics Issue: Volume 44:Issue 1(2007) Page Start: 59 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
48. The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?. Issue 6 (22nd September 2017) Authors: Eggermann, Thomas; Oehl‐Jaschkowitz, Barbara; Dicks, Severin; Thomas, Wolfgang; Kanber, Deniz; Albrecht, Beate; Begemann, Matthias; Kurth, Ingo; Beygo, Jasmin; Buiting, Karin Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 6(2017) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
49. The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders. Issue 8 (3rd August 2018) Authors: Beygo, Jasmin; Mertel, Claudia; Kaya, Sabine; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas; Horsthemke, Bernhard; Buiting, Karin Journal: Epigenetics Issue: Volume 13:Issue 8(2018) Page Start: 822 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
50. Upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts. Issue 6 (11th March 2020) Authors: Hjortshøj, Tina D.; Sørensen, Anna R.; Yusibova, Melodi; Hansen, Bo M.; Dunø, Morten; Balslev‐Harder, Marie; Grønskov, Karen; van Hagen, Johanna M.; Polstra, Abeltje M.; Eggermann, Thomas; Finken, Martijn J.J.; Tümer, Zeynep Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗