Items where Author is "Upadhyaya, M"

Up a level
Export as [feed] RSS
Group by: Item Type | No Grouping
Number of items: 15.

Journal article

MAYES, M.B., MORGAN, T., WINSTON, J., BUXTON, D.S., KAMAT, M.A., SMITH, D., WILLIAMS, M., MARTIN, R.L., KLEINJAN, D.A., COOPER, D.N., UPADHYAYA, M. and CHUZHANOVA, N., 2015. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Human Genomics, 9. ISSN 1479-7364

HAMBY, S.E., REVIRIEGO, P., COOPER, D.N., UPADHYAYA, M. and CHUZHANOVA, N., 2013. Screening in silico-predicted remotely acting NF1 regulatory elements for mutations in patients with neurofibromatosis type 1. Human Genomics, 7 (18).

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.

ALKINDY, A., CHUZHANOVA, N., KINI, U., COOPER, D.N. and UPADHYAYA, M., 2012. Genotype-phenotype correlations in neurofibromatosis type 1 (NF1): an increased risk of tumour complications in patients with NF1 splice site mutations? Genomic Medicine, 6 (12).

THOMAS, L., SPURLOCK, G., EUDALL, C., THOMAS, N., HAMBEY, S.E., CHUZHANOVA, N., BREMS, H., LEGIUS, E. and UPADHYAYA, M., 2011. The germline and somatic NF1 mutational spectra associated with NF1 cutaneous neurofibromas: Identification of 60 novel somatic NF1 mutations. European Journal of Human Genetics, 20, pp. 411-419.

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.

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.

SPURLOCK, G., BENNETT, E., CHUZHANOVA, N., THOMAS, N., HOI-PING, J., SIDE, L., DAVIES, S., HAAN, E., KERR, K., HUSON, S.M. and UPADHYAYA, M., 2009. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype. Journal of Medical Genetics, 46, pp. 431-437.

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

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.

UPADHYAYA, M., HUSON, S.M., DAVIES, M., THOMAS, N., CHUZHANOVA, N., GIOVANNINI, S., EVANS, D.G., HOWARD, E., KERR, B., GRIFFITHS, S., CONSOLI, C., SIDE, L., ADAMS, D., PIERPOINT, M., HACHEN, R., BARNICOAT, A., LI, H., WALLACE, P., STEVENSON, D., VISKOCHIL, D., BARALLE, D., HAAN, E., TURNPENNY, P., RICCARDI, V., LAZARO, C. and MESSIAEN, L., 2007. An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation. American Journal of Human Genetics, 80, pp. 140-151.

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.

Chapter in book

UPADHYAYA, M., CHUZHANOVA, N. and COOPER, D.N., 2012. The somatic mutational spectrum of the NF1 gene. In: M. UPADHYAYA and D.N. COOPER, eds., Neurofibromatosis type 1. Heidelberg: Springer, pp. 211-233. ISBN 978364232863

This list was generated on Fri Dec 13 10:03:25 2019 UTC.