Items where Author is "Kehrer-Sawatzki, H"

Journal article

ZICKLER, A.M., HAMPP, S., MESSIAEN, L., BENGESSER, K., MUSSOTTER, T., ROEHL, A.C., WIMMER, K., MAUTNER, V., KLUWE, L., UPADHYAYA, M., PASMANT, E., CHUZHANOVA, N., KESTLER, H.A., HÖGEL, J., LEGIUS, E., CLAES, K., COOPER, D.N. and KEHRER-SAWATZKI, H., 2012. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Human Mutation, 33, pp. 372-383.

VOGT, J., MUSSOTTER, T., BENGESSER, K., CLAES, K., HÖGEL, J., CHUZHANOVA, N., FU, C., VAN DEN ENDE, J., MAUTNER, V.F., COOPER, D.N., MESSIAEN, L. and KEHRER-SAWATZKI, H., 2012. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Human Mutation, 33 (11), pp. 1599-1609.

COOPER, D.N., CHEN, J.M., BALL, E.V., HOWELLS, K., MORT, M., PHILLIPS, A.D., CHUZHANOVA, N., KEHRER-SAWATZKI, H. and STEPHENS, M., 2010. Genes, mutations and human inherited disease at the dawn of the 100K mutome era. Human Mutation, 31, pp. 631-655.

ROEHL, A.C., VOGT, J., MUSSOTTER, T., ZICKER, A.N., SPÖRI, H., HÖGEL, J., CHUZHANOVA, N.A., WIMMER, K., KLUWE, L., MAUTNER, V., COOPER, D.N. and KEHRER-SAWATZKI, H., 2010. Intrachromosomal mitotic non-allelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Human Mutation, 31, pp. 1163-1173.

BENGESSER, K., COOPER, D.N., STEINMANN, K., KLUWE, L., CHUZHANOVA, N.A., WIMMER, K., TINSCHERT, S., MAUTNER, V. and KEHRER-SAWATZKI, H., 2010. A novel third type of recurrent NF1 microdeletion mediated by non-allelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Human Mutation, 31, pp. 742-751.

KOLB, J., CHUZHANOVA, N.A., HÖGEL, J., COOPER, D.N., BACOLLA, A. and KEHRER-SAWATZKI, H., 2009. Cruciform-forming inverted repeats mediated many microinversions that distinguish the human and chimpanzee genomes. Chromosome Research, 17, pp. 469-483.

WOLF, A., MILLAR, D.S., CALIEBE, A., HORAN, M., NEWSWAY, V., KUMPF, D., STEINMANN, K., CHEE, I.S., LEE, Y.H., MUTIRANGURA, A., PEPE, G., RICKARDS, O., SCHMIDTKE, J., SCHEMPP, W., CHUZHANOVA, N., KEHRER-SAWATZKI, H., KRAWCZAK, M. and COOPER, D.N., 2009. A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Human Mutation, 30 (2), pp. 239-247.

STEINMANN, K., COOPER, D.N., KLUWE, L., CHUZHANOVA, N.A., SENGER, C., SERRA, E., LAZARO, C., WIMMER, K., MAUTNER, V. and KEHRER-SAWATZKI, H., 2007. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. American Journal of Human Genetics, 81, pp. 1201-1220.

KEHRER-SAWATZKI, H., SANDIG, C., CHUZHANOVA, N., GOIDTS, V., SZAMALEK, J.M., TÄNZER, S., MÜLLER, S., PLATZER, M., COOPER, D.N. and HAMEISTER, H., 2005. Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (pan troglodytes). Human Mutation, 25, pp. 45-55.

GOIDTS, V., SZAMALEK, J.M., DE, J., COOPER, D.N., CHUZHANOVA, N.A., HAMEISTER, H. and KEHRER-SAWATZKI, H., 2005. Independent intra-chromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Research, 15, pp. 1232-1242.

SZAMALEK, J.M., GOIDTS, V., CHUZHANOVA, N., HAMEISTER, H., COOPER, D.N. and KEHRER-SAWATZKI, H., 2005. Molecular characterization of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Human Genetics, 117, pp. 168-176.