Publication
2026
- Aboklaish, A. F. et al. 2026. Assessment of macrolide resistance in the respiratory tract of preterm-born infants during treatment with azithromycin in the AZTEC clinical trial. Thorax (10.1136/thorax-2025-224094)
2025
- Singhrao, S. K. and Consoli, C. 2025. Identifying Alzheimer’s disease genes in apolipoprotein E−/− mice brains with confirmed Porphyromonas gingivalis entry. Journal of Alzheimer's Disease Reports 9 (10.1177/25424823251332874)
- Davison, G. et al., 2025. ColdZyme® reduces viral load and upper respiratory tract infection duration and protects airway epithelia from infection with human rhinoviruses.. The Journal of Physiology 603 (6), pp.1335-1680. (10.1113/JP288136)
2024
- Lowe, J. et al. 2024. Azithromycin therapy for prevention of chronic lung disease of prematurity (AZTEC): a multicentre, double-blind, randomised, placebo-controlled trial. The Lancet Respiratory Medicine 12 (8), pp.608-618. (10.1016/S2213-2600(24)00079-1)
- Singhrao, S. K. et al., 2024. Porphyromonas gingivalis LPS and actinomyces naeslundii conditioned medium enhance the release of a low molecular weight, transcriptionally active, fragment of glycogen synthase-3 kinase in IMR-32 cell line. Journal of Alzheimer's Disease Reports 8 (1), pp.1055-1067. (10.3233/adr-240066)
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. The 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. et al. 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)
Articles
- Aboklaish, A. F. et al. 2026. Assessment of macrolide resistance in the respiratory tract of preterm-born infants during treatment with azithromycin in the AZTEC clinical trial. Thorax (10.1136/thorax-2025-224094)
- Singhrao, S. K. and Consoli, C. 2025. Identifying Alzheimer’s disease genes in apolipoprotein E−/− mice brains with confirmed Porphyromonas gingivalis entry. Journal of Alzheimer's Disease Reports 9 (10.1177/25424823251332874)
- Davison, G. et al., 2025. ColdZyme® reduces viral load and upper respiratory tract infection duration and protects airway epithelia from infection with human rhinoviruses.. The Journal of Physiology 603 (6), pp.1335-1680. (10.1113/JP288136)
- Lowe, J. et al. 2024. Azithromycin therapy for prevention of chronic lung disease of prematurity (AZTEC): a multicentre, double-blind, randomised, placebo-controlled trial. The Lancet Respiratory Medicine 12 (8), pp.608-618. (10.1016/S2213-2600(24)00079-1)
- Singhrao, S. K. et al., 2024. Porphyromonas gingivalis LPS and actinomyces naeslundii conditioned medium enhance the release of a low molecular weight, transcriptionally active, fragment of glycogen synthase-3 kinase in IMR-32 cell line. Journal of Alzheimer's Disease Reports 8 (1), pp.1055-1067. (10.3233/adr-240066)
- 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)
- 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)
- 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. The American Journal of Human Genetics 80 (1), pp.140-151. (10.1086/510781)
- Consoli, C. et al. 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, 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)
- 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)
Thesis
- Consoli, C. 2006. Molecular genetics of neurofibromatosis type 1 (NF1).. PhD Thesis , Cardiff University.
News articles
Contact Details
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029 20687030
Henry Wellcome Building for Biomedical Research, Room 3F08, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN
029 20687030
Henry Wellcome Building for Biomedical Research, Room 3F08, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN