Karin Buiting
Institut für Humangenetik
Universitätsklinikum Essen
Germany
Name/email consistency: high
- Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Buiting, K., Gross, S., Lich, C., Gillessen-Kaesbach, G., el-Maarri, O., Horsthemke, B. Am. J. Hum. Genet. (2003)
- Disruption of the bipartite imprinting center in a family with Angelman syndrome. Buiting, K., Barnicoat, A., Lich, C., Pembrey, M., Malcolm, S., Horsthemke, B. Am. J. Hum. Genet. (2001)
- Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling. Buiting, K., Färber, C., Kroisel, P., Wagner, K., Brueton, L., Robertson, M.E., Lich, C., Horsthemke, B. Clin. Genet. (2000)
- The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13. Buiting, K., Körner, C., Ulrich, B., Wahle, E., Horsthemke, B. Cytogenet. Cell Genet. (1999)
- A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Buiting, K., Lich, C., Cottrell, S., Barnicoat, A., Horsthemke, B. Hum. Genet. (1999)
