Discovery - University of Dundee - Online Publications

Library & Learning Centre

Molecular & Cellular Pathology

11 - 20 out of 696Page size: 10
Sort by: Publication year
  1. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Tatton-Brown, K. , Seal, S. , Ruark, E. , Harmer, J. , Ramsay, E. , del Vecchio Duarte, S. , Zachariou, A. , Hanks, S. , O'Brien, E. , Aksglaede, L. , Baralle, D. , Dabir, T. , Gener, B. , Goudie, D. , Homfray, T. , Kumar, A. , Pilz, D. T. , Selicorni, A. , Temple, I. K. , Van Maldergem, L. & 4 others Yachelevich, N., Childhood Overgrowth Consortium, van Montfort, R. & Rahman, N. Apr 2014 In : Nature Genetics. 46, 4, p. 385-388 4 p.

    Research output: Contribution to journalArticle

  2. The molecular genetic analysis of the expanding pachyonychia congenita case collection

    Wilson, N. J., O'Toole, E., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E. & Smith, F. J. D. 10 Mar 2014 In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  3. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

    Vahlquist, A., Virtanen, M., Hellström-Pigg, M., Dragomir, A., Ryberg, K., Wilson, N. J., Östman-Smith, I., Lu, L., McGrath, J. A. & Smith, F. J. D. Jan 2014 In : Clinical and Experimental Dermatology. 39, 1, p. 30-34 5 p.

    Research output: Contribution to journalArticle

  4. A survey of reporting of colorectal cancer in Scotland: compliance with guidelines and effect of proforma reporting

    Woods, Y. L., Mukhtar, S., McClements, P., Lang, J., Steele, R. J. & Carey, F. A. 2014 In : Journal of Clinical Pathology. 67, p. 499-505 7 p.

    Research output: Contribution to journalArticle

  5. Aicardi syndrome in a 47 XXY male - A variable developmental phenotype?

    Shetty, J., Fraser, J., Goudie, D. & Kirkpatrick, M. 2014 In : European Journal of Paediatric Neurology. 18, 4, p. 529-531 3 p.

    Research output: Contribution to journalArticle

  6. Chromosome 9p deletion in clear cell renal cell carcinoma predicts recurrence and survival following surgery

    El-Mokadem, I., Fitzpatrick, J., Bondad, J., Rauchhaus, P., Cunningham, J., Pratt, N., Fleming, S. & Nabi, G. 2014 In : British Journal of Cancer.

    Research output: Contribution to journalArticle

  7. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

    Campbell, P. , Morton, P. E. , Takeichi, T. , Salam, A. , Roberts, N. , Proudfoot, L. E. , Mellerio, J. E. , Aminu, K. , Wellington, C. , Patil, S. N. , Akiyama, M. , Liu, L. , McMillan, J. R. , Aristodemou, S. , Ishida-Yamamoto, A. , Abdul-Wahab, A. , Petrof, G. , Fong, K. , Harnchoowong, S. , Stone, K. L. & 5 others Harper, J. I., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A. 2014 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  8. Glutathione S-transferase P1 (GSTP1) directly influences platinum drug chemosensitivity in ovarian tumour cell lines

    Sawers, L., Ferguson, M. J., Ihrig, B. R., Young, H. C., Chakravarty, P., Wolf, C. R. & Smith, G. 2014 In : British Journal of Cancer.

    Research output: Contribution to journalArticle

  9. Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease

    Reisenauer, A. K., Wordingham, S. V., York, J., Kokkonen, E. W. J., McLean, W. H. I., Wilson, N. J. & Smith, F. J. D. 2014 In : British Journal of Dermatology. 170, 6, p. 1362-1365 4 p.

    Research output: Contribution to journalArticle

  10. Improved annotation of 3' untranslated regions and complex loci by combination of strand-specific direct RNA sequencing, RNA-seq and ESTs

    Schurch, N. J., Cole, C., Sherstnev, A., Song, J., Duc, C., Storey, K. G., McLean, W. H. I., Brown, S. J., Simpson, G. G. & Barton, G. J. 2014 In : PLoS ONE. 9, 4, e94270

    Research output: Contribution to journalArticle

Previous 1 2 3 4 5 6 7 8 ...70 Next

Find Research Units in Discovery

Library & Learning Centre

Contact | Accessibility | Policy