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

What lies beneath?: Scanning probe tomography may have the answer

Conneely, M. J. & Campbell, P. A. Jun-2013 In : Journal of Investigative Dermatology. 133, 6, p. 1458-1460, 3 p.

Research output: Contribution to journal › Comment/debate

Methylated tissue factor pathway inhibitor 2 (TFPI2) DNA in serum is a biomarker of metastatic melanoma

Nigro, C. L., Wang, H., McHugh, A., Lattanzio, L., Matin, R., Harwood, C., Syed, N., Hatzimichael, E., Briasoulis, E., Merlano, M., Evans, A., Thompson, A., Leigh, I., Fleming, C., Inman, G. J., Proby, C. & Crook, T. May-2013 In : Journal of Investigative Dermatology. 133, 5, p. 1278-1285, 8 p.

Research output: Contribution to journal › Article

A nonsense mutation in the mattrin gene causes the matted mouse phenotype and is a predisposing gene for atopic dermatitis in humans

Goh, C. S., Saunders, S. P., Cole, C., Weidinger, S., Baurecht, H., Lee, Y., Reynolds, N. J., Barker, J. N., Cordell, H. J., Brown, S. J., Irvine, A. D., McLean, I., Sandilands, A. & Fallon, P. G. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S145, 1 p., 854

Research output: Contribution to journal › Meeting abstract

A novel mutation in COL7A1, G2269R causing nail only DDEB and RDEB, with a presentation similar to TBDN at birth when coinherited with R2814X COL7A1 mutation

Cohn, H. I., Tran, K., Chow, C. W., Palmer, E., Turner, A., South, A. P. & Murrell, D. F. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S141, 1 p., 834

Research output: Contribution to journal › Meeting abstract

A two gene serum epigenetic signature detects metastatic melanoma with high sensitivity and specificity

Wang, H., McHugh, A., Matin, R., Fleming, C., Leigh, I., Harwood, C., Inman, G., Crook, T. & Proby, C. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S235, 1 p., 1379

Research output: Contribution to journal › Meeting abstract