Genomic imprinting, DNA methylation in development and cancer

in Essen

Our focus are imprinting defects in genetic diseases (Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, Russell-Silver syndrome) as well as DNA methylation changes in cancer.


MS-PCR, bisulfite sequencing, next generation sequencing


Buiting K, Groß S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B (2003) Epimutations in Prader-Willi and Angelman syndrome: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 72: 571-577

Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpaß L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K (2003) Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cell cloning and identification of candidate downstream genes. Hum Mol Genet: 12: :2723-32



Karin Buiting, PhD
Institut für Humangenetik, Universitätsklinikum
Hufelandstrasse 55
D-45122 Essen, Germany

Phone: +49 201 723 4555
Fax: +49 201 723 5900


Bernhard Horsthemke, PhD
Institut fuer Humangenetik
Universitaetsklinikum Essen
Hufelandstrasse 55
45122 Essen, Germany

Phone: +49 (201) 723 4556
Fax: +49 (201) 723 5900