Oliver Bartsch
Institut für Humangenetik
Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Langenbeckstrasse 1
D-55131 Mainz
Germany
Name/email consistency: high
- Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Bartsch, O., Labonté, J., Albrecht, B., Wieczorek, D., Lechno, S., Zechner, U., Haaf, T. Am. J. Med. Genet. A (2010)
- Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. Bartsch, O., Gebauer, K., Lechno, S., van Esch, H., Froyen, G., Bonin, M., Seidel, J., Thamm-Mücke, B., Horn, D., Klopocki, E., Hertzberg, C., Zechner, U., Haaf, T. Am. J. Med. Genet. A (2010)
- Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Bartsch, O., Vlcková, Z., Erdogan, F., Ullmann, R., Novotná, D., Spiegel, M., Beyer, V., Haaf, T., Zechner, U., Seemanová, E. Cytogenet. Genome Res. (2007)
- Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Bartsch, O., Rasi, S., Delicado, A., Dyack, S., Neumann, L.M., Seemanová, E., Volleth, M., Haaf, T., Kalscheuer, V.M. Hum. Genet. (2006)
- Two complementary recombinant chromosomes 5 in a healthy woman. Bartsch, O., Ergun, M.A., Balci, S., Kan, D., Eggermann, T., Kotzot, D. Cytogenet. Genome Res. (2006)
- FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22). Bartsch, O., Rasi, S., Hoffmann, K., Blin, N. Eur. J. Hum. Genet. (2005)
- DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Bartsch, O., Schmidt, S., Richter, M., Morlot, S., Seemanová, E., Wiebe, G., Rasi, S. Hum. Genet. (2005)
- Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. Bartsch, O., Loitzsch, A., Kozlowski, P., Mazauric, M.L., Hickmann, G. Eur. J. Hum. Genet. (2005)
