Items where Author is "Mautner, V"

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.

THOMAS, L., KLUWE, L., CHUZHANOVA, N., MAUTNER, V. and UPADHYAYA, M., 2010. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics, 11, pp. 391-400.

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.

MANTRIPRAGADA, K.K., DE, S., PARTRIDGE, C., MENZEL, U., ANDERSSON, R., CHUZHANOVA, N., KLUWE, L., GUHA, A., MAUTNER, V., DUMANSKI, J. and UPADHYAYA, M., 2009. Genome-wide high-resolution analysis of DNA copy number alterations in NF1 associated malignant peripheral nerve sheath tumours using 32K BAC array. Genes Chromosomes Cancer, 48, pp. 897-907.

UPADHYAYA, M., SPURLOCK, G., KLUWE, L., CHUZHANOVA, N., BENNETT, E., THOMAS, N., GUHA, A. and MAUTNER, V., 2009. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics, 10, pp. 251-263.

UPADHYAYA, M., KLUWE, L., SPURLOCK, G., MONEM, B., MAJOUNIE, E., MANTRIPRAGADA, K., RUGGIERI, M., CHUZHANOVA, N., EVANS, D.G., FERNER, R., THOMAS, N., GUHA, A. and MAUTNER, V., 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation, 29 (1), pp. 74-82. ISSN 1059-7794

MANTRIPRAGADA, K.K., SPURLOCK, G., KLUWE, L., CHUZHANOVA, N., FERNER, R.E., FRAYLING, I.M., DUMANSKI, J.P., GUHA, A., MAUTNER, V. and UPADHYAYA, M., 2008. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clinical Cancer Research, 14 (4), pp. 1015-1024. ISSN 1078-0432

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.

UPADHYAYA, M., KLUWE, L., SPURLOCK, G., MANTRIPRAGADA, K., MAJOUNIE, E., CHUZHANOVA, N., EVANS, G., FERNER, R., THOMAS, N., GUHA, A. and MAUTNER, V., 2007. The germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumours (MPNSTs). Human Mutation, 29, pp. 74-82.