Dr Claudia Consoli

2020

• Short, E. et al. 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)

2010

• Pletinck, A. et al. 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)

2007

• Upadhyaya, M. et al. 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)

2006

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

2005

• Consoli, C., Moss, C., Green, S., Balderson, D., Cooper, D. N. and Upadhyaya, M. 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)

2004

• Upadhyaya, M. et al. 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)

2003

• Upadhyaya, M. et al. 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)