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  1. Reliability and validity of genotyping filaggrin null mutations

    Margolis, D. J., Apter, A. J., Mitra, N., Gupta, J., Hoffstad, O., Papadopoulos, M., Rebbeck, T. R., MacCallum, S., Campbell, L. E., Sandilands, A. & McLean, W. H. I. Apr-2013 In : Journal of Dermatological Science. 70, 1, p. 67-68, 2 p.

    Research output: Contribution to journalLetter

  2. Dysregulation of autophagy in chronic lymphocytic leukemia with the small-molecule Sirtuin inhibitor Tenovin-6

    MacCallum, S. F., Groves, M. J., James, J., Murray, K., Appleyard, V., Prescott, A. R., Drbal, A. A., Nicolaou, A., Cunningham, J., Haydock, S., Ganley, I. G., Westwood, N. J., Coates, P. J., Lain, S. & Tauro, S. 1-Jan-2013 In : Scientific Reports. 3, 1275

    Research output: Contribution to journalArticle

  3. Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

    Allen, E. H. A., Atkinson, S. D., Liao, H., Moore, J. E., Pedrioli, D. M. L., Smith, F. J. D., McLean, W. H. I. & Moore, C. B. T. 2013 In : Investigative Ophthalmology & Visual Science. 54, 1, p. 494-502, 9 p.

    Research output: Contribution to journalArticle

  4. Detecting and quantifying p53 isoforms at mRNA level in cell lines and tissues

    Khoury, M. P., Marcel, V., Fernandes, K., Diot, A., Lane, D. P. & Bourdon, J-C. 2013 p53 protocols. Deb, S. & Deb, S. P. (eds.). Totowa, N.J.: Humana Press, Vol. 962, p. 1-14 14 p. (Methods in Molecular Biology).

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

  5. Detecting p53 isoforms at protein level

    Marcel, V., Khoury, M. P., Fernandes, K., Diot, A., Lane, D. P. & Bourdon, J-C. 2013 p53 protocols. Deb, S. & Deb, S. P. (eds.). Totowa, N.J.: Humana Press, Vol. 962, p. 15-29 15 p. (Methods in Molecular Biology).

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

  6. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Pohler, E. , Mamai, O. , Hirst, J. , Zamiri, M. , Horn, H. , Nomura, T. , Irvine, A. D. , Moran, B. , Wilson, N. J. , Smith, F. J. D. , Goh, C. S. M. , Sandilands, A. , Cole, C. , Barton, G. J. , Evans, A. T. , Shimizu, H. , Akiyama, M. , Suehiro, M. , Konohana, I. , Shboul, M. & 12 others Teissier, S., Boussofara, L., Denguezli, M., Saad, A., Gribaa, M., Dopping-Hepenstal, P. J., McGrath, J. A., Brown, S. J., Goudie, D. R., Reversade, B., Munro, C. S. & McLean, W. H. I. Nov-2012 In : Nature Genetics. 44, 11, p. 1272-1276, 5 p.

    Research output: Contribution to journalArticle

  7. Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Irvine, A. D., Nomura, T., McGrath, J. A., Munro, C. A. & McLean, W. Sep-2012 In : Journal of Investigative Dermatology. 132, p. S89-S89, 1 p.

    Research output: Contribution to journalMeeting abstract

  8. Influenza A viruses control expression of proviral human p53 isoforms p53β and Delta133p53α

    Terrier, O., Marcel, V., Cartet, G., Lane, D. P., Lina, B., Rosa-Calatrava, M. & Bourdon, J-C. Aug-2012 In : Journal of Virology. 86, 16, p. 8452-8460, 9 p.

    Research output: Contribution to journalArticle

  9. Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant

    Palmer, C. N. A. , Burch, L. , Donnelly, L. A. , Colhoun, H. , Doney, A. S. , Dillon, J. F. , Pearson, E. R. , Morris, A. D. , Maglio, C. , Pirazzi, C. , Burza, M. A. , Adiels, M. , Svensson, P-A. , Jacobson, P. , Borén, J. , Sjöström, L. , Carlsson, L. M. S. , Romeo, S. , McCarthy, M. , Hattersley, A. T. & 2 others Frayling, T. & Peltonen, M. 18-Jun-2012 In : PLoS ONE. 7, 6, e39362

    Research output: Contribution to journalArticle

  10. Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

    Sandilands, A., Brown, S. J., Goh, C. S., Pohler, E., Wilson, N. J., Campbell, L. E., Miyamoto, K., Kubo, A., Irvine, A. D., Thawer-Esmail, F., Munro, C. S., McLean, W. H. I., Kudoh, J., Amagai, M. & Matsui, T. May-2012 In : Journal of Investigative Dermatology. 132, 5, p. 1507-1510, 4 p.

    Research output: Contribution to journalLetter

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