Edinburgh Research Explorer

Centre for Genomic and Experimental Medicine

Organisational unit: Research Centre

  1. Article › Research › Peer-reviewed
  2. Type I interferon-mediated autoinflammation due to DNase II deficiency

    Rodero, M. P., Tesser, A., Bartok, E., Rice, G. I., Della Mina, E., Depp, M., Beitz, B., Bondet, V., Cagnard, N., Duffy, D., Dussiot, M., Frémond, M., Gattorno, M., Guillem, F., Kitabayashi, N., Porcheray, F., Rieux-laucat, F., Seabra, L., Uggenti, C., Volpi, S. & 37 others, Zeef, L. A. H., Alyanakian, M., Beltrand, J., Bianco, A. M., Boddaert, N., Brouzes, C., Candon, S., Caorsi, R., Charbit, M., Fabre, M., Faletra, F., Girard, M., Harroche, A., Hartmann, E., Lasne, D., Marcuzzi, A., Neven, B., Nitschke, P., Pascreau, T., Pastore, S., Picard, C., Picco, P., Piscianz, E., Polak, M., Quartier, P., Rabant, M., Stocco, G., Taddio, A., Uettwiller, F., Valencic, E., Vozzi, D., Hartmann, G., Barchet, W., Hermine, O., Bader-meunier, B., Tommasini, A. & Crow, Y. J., 19 Dec 2017, In : Nature Communications. 8, 1, p. 2176

    Research output: Contribution to journalArticle

  3. Type I interferonopathies: a novel set of inborn errors of immunity

    Crow, Y. J., Nov 2011, In : Annals of the New York Academy of Sciences. 1238, p. 91-8 8 p.

    Research output: Contribution to journalArticle

  4. Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations

    Letizia, C., Taranta, A., Migliaccio, S., Caliumi, C., Diacinti, D., Delfini, E., D'Erasmo, E., Iacobini, M., Roggini, M., Albagha, O. M. E., Ralston, S. H. & Teti, A., Jan 2004, In : Calcified Tissue International. 74, 1, p. 42-6 5 p.

    Research output: Contribution to journalArticle

  5. UK cystic fibrosis gene therapy consortium tracking study: Exhaled breath condensate pH increases with treatment of an infective exacerbation

    Macleod, K., Horsley, A., Gray, R., Imrie, M., Leiton, J., Dewar, M., Voase, N., Saunders, C., Hyde, S., Gill, D., Geddes, D., Davies, J. C., Alton, E., Porteous, D., Boyd, C., Cunningham, S., Innes, J. A. & Greening, A., 2007, In : Pediatric Pulmonology. p. 343-344 2 p.

    Research output: Contribution to journalArticle

  6. UKCF gene therapy consortium tracking study: Lung clearance index improves with treatment of an infective exacerbation

    Horsley, A., Macleod, K., Saunders, C., Gray, R. D., Dewar, M., Voase, N., Porteous, D., Boyd, C., Hyde, S., Gill, D., Geddes, D., Greening, A. P., Cunningham, S., Davies, J. C., Alton, E. & Innes, J. A., 2007, In : Pediatric Pulmonology. p. 335-336 2 p.

    Research output: Contribution to journalArticle

  7. UKCF gene therapy consortium tracking study: Sputum and serum calprotectin are useful novel measurements in CF exacerbation

    Gray, R. D., Horsley, A., Macleod, K., Imrie, M., Dewar, M., Voase, N., Donovan, J., Hyde, S., Gill, D., Griesenbach, U., Davies, J. C., Alton, E., Boyd, A. C., Porteous, D., Cunningham, S., Innes, J. A. & Greening, A. P., 2007, In : Pediatric Pulmonology. p. 338 1 p.

    Research output: Contribution to journalArticle

  8. Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch

    Long, J., Gallagher, T. R. A., Cavey, J. R., Sheppard, P. W., Ralston, S. H., Layfield, R. & Searle, M. S., 29 Feb 2008, In : Journal of Biological Chemistry. 283, 9, p. 5427-5440 14 p.

    Research output: Contribution to journalArticle

  9. Ulcerative colitis

    Ho, G-T., Boyapati, R. & Satsangi, J., 1 May 2015, In : Medicine. 43, 5

    Research output: Contribution to journalArticle

  10. Ultrastructural changes in the interhaemal membrane and junctional zone of the murine chorioallantoic placenta across gestation

    Coan, PM., Ferguson-Smith, AC. & Burton, GJ., Dec 2005, In : Journal of Anatomy. 207, 6, p. 783-796 14 p.

    Research output: Contribution to journalArticle

  11. Understanding the Role of DISC1 in Psychiatric Disease and during Normal Development

    Brandon, N. J., Millar, J. K., Korth, C., Sive, H., Singh, K. K. & Sawa, A., 14 Oct 2009, In : Journal of Neuroscience. 29, 41, p. 12768-12775 8 p.

    Research output: Contribution to journalArticle