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Number of items: 7.

Short, Emma, Thomas, Laura E., Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter, Mort, Matthew, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R. 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28 (1) , pp. 118-121. 10.1038/s41431-019-0486-2

Pletinck, Anneleen, Consoli, Claudia, Van Landschoot, Maria, Steppan, Sonja, Topley, Nicholas, Passlick-Deetjen, Jutta, Vanholder, Raymond and Van Biesen, Wim 2010. Salt intake induces epithelial-to-mesenchymal transition of the peritoneal membrane in rats. Nephrology Dialysis Transplantation 25 (5) , pp. 1688-1696. 10.1093/ndt/gfq036

Upadhyaya, Meena, Huson, Susan M., Davies, Mark, Thomas, Nicholas Stuart Tudor, Chuzhanova, Nadia, Giovannini, S., Evans, D. Gareth, Howard, E., Kerr, B., Griffiths, S., Consoli, Claudia, Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Liu, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C. and Messiaen, Ludwine 2007. An absence of cutaneous neurofibromas associated with a 3-bp inframe 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 (1) , pp. 140-151. 10.1086/510781

Consoli, Claudia 2006. Molecular genetics of neurofibromatosis type 1 (NF1). PhD Thesis, Cardiff University.

Consoli, Claudia, Moss, Celia, Green, S., Balderson, D., Cooper, David Neil and Upadhyaya, Meena 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. Journal of Investigative Dermatology 125 (3) , pp. 463-466. 10.1111/j.0022-202x.2005.23834.x

Upadhyaya, Meena, Han, S., Consoli, Claudia, Majounie, Elisa, Horan, M., Thomas, Nicholas Stuart, Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. and Cooper, David Neil 2004. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Human Mutation 23 (2) , pp. 134-146. 10.1002/humu.10305

Upadhyaya, Meena, Majounie, Elisa, Thompson, P., Han, S., Consoli, Claudia, Krawczak, M., Cordeiro, I. and Cooper, David Neil 2003. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Human Genetics 112 (1) , pp. 12-17. 10.1007/s00439-002-0840-1

This list was generated on Fri Sep 17 04:51:31 2021 BST.