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Research portal

Journal of Dermatological Science, ‎0923-1811

Journal

  1. Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin

    Akiyama, M., Takeichi, T., McGrath, J. A. & Sugiura, K., 1 Feb 2018, (E-pub ahead of print) In: Journal of Dermatological Science.

    Research output: Contribution to journalArticlepeer-review

  2. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

    Lee, J. Y. W., Farag, A., Tawdy, A., Liu, L., Michael, M., Rashidghamat, E., Aristodemou, S., Hsu, C. K., Simpson, M. A., Parsons, M. & McGrath, J. A., Feb 2018, In: Journal of Dermatological Science. 89, 2, p. 198-201

    Research output: Contribution to journalLetterpeer-review

  3. PLACK syndrome resulting from a new homozygous insertion mutation in CAST

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C-K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J-P., 9 Jun 2017, (E-pub ahead of print) In: Journal of Dermatological Science.

    Research output: Contribution to journalArticlepeer-review

  4. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

    Hsu, C-K., Liu, L., Can, P. K., Kocatürk, E., McMillan, J. R., Güngör, Ş., Hürdoğan, Ö., Sargan, A., Degirmentepe, E. N., Lee, J. Y. W., Simpson, M. A. & McGrath, J. A., 11 Aug 2016, (E-pub ahead of print) In: Journal of Dermatological Science.

    Research output: Contribution to journalArticlepeer-review

  5. Galectin-6 is a novel skin anti-microbial peptide that is modulated by the skin barrier and microbiome

    Natsuga, K. & Watt, F. M., 23 Jun 2016, (E-pub ahead of print) In: Journal of Dermatological Science.

    Research output: Contribution to journalLetterpeer-review

  6. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

    Takeichi, T., Sugiura, K., Tso, S., Simpson, M. A., McGrath, J. A. & Akiyama, M., 27 Oct 2015, In: Journal of Dermatological Science.

    Research output: Contribution to journalArticlepeer-review

  7. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

    Takeichi, T., Sugiura, K., Hsu, C-K., Tanahashi, K., Takama, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., Sep 2015, In: Journal of Dermatological Science. 79, 3, p. 317-9 3 p.

    Research output: Contribution to journalArticlepeer-review

  8. Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

    Rodríguez, F. A., Gana, M. J., Yubero, M. J., Zillmann, G., Krämer, S. M., Catalán, J., Rubio-Astudillo, J., González, S., Liu, L., Ozoemena, L., Mellerio, J. E., Mellerio, J. M., McGrath, J. A., Palisson, F. & Conget, P., Feb 2012, In: Journal of Dermatological Science. 65, 2, p. 149-152 4 p., N/A.

    Research output: Contribution to journalLetterpeer-review

  9. Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A

    Nagy, N., Wedgeworth, E., Hamada, T., White, J. M., Hashimoto, T. & McGrath, J. A., Jun 2010, In: Journal of Dermatological Science. 58, 3, p. 220 - 222 3 p.

    Research output: Contribution to journalLetterpeer-review

  10. Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

    Nagy, N., Greaves, M. W., Tanaka, A., McGrath, J. A. & Grattan, C. E., Oct 2009, In: Journal of Dermatological Science. 56, 1, p. 62 - 64 3 p.

    Research output: Contribution to journalLetterpeer-review

  11. A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family

    Arita, K., Abe, R., Baba, K., McGrath, J. A., Akiyama, M. & Shimizu, H., Jul 2009, In: Journal of Dermatological Science. 55, 1, p. 64 - 65 2 p.

    Research output: Contribution to journalLetterpeer-review

  12. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene

    Clements, S. E., Wessagowit, V., Lai-Cheong, J. E., Arita, K. & McGrath, J. A., Jan 2008, In: Journal of Dermatological Science. 49, 1, p. 39 - 42 4 p.

    Research output: Contribution to journalLiterature reviewpeer-review

  13. Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

    Liu, L., Choy, Y. S., Wessagowit, V., Ozoemena, L., Dopping-Hepenstal, P. J. C., Fassihi, H. & McGrath, J. A., Oct 2006, In: Journal of Dermatological Science. 44, 1, p. 48 - 51 4 p.

    Research output: Contribution to journalLetterpeer-review

  14. Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases

    Wessagowit, V., Nalla, V. K., Rogan, P. K. & McGrath, J. A., Nov 2005, In: Journal of Dermatological Science. 40, 2, p. 73 - 84 12 p.

    Research output: Contribution to journalLiterature reviewpeer-review

  15. Neonatal diagnosis of Kindler syndrome.

    Fassihi, H., Wessagowit, V., Jones, C., Dopping-Hepenstal, P. J., Denyer, J., Mellerio, J. E., Clarke, S. & McGrath, J. A., Sep 2005, In: Journal of Dermatological Science. 39, 3, p. 183 - 185 3 p.

    Research output: Contribution to journalArticlepeer-review

  16. Three-dimensional imaging reveals major changes in skin microvasulature in lipoid proteinosis and lichen sclerosis.

    Kowalewski, C., Kozlowska, A., Chan, I., Gorska, M., Wozniak, K., Jablonska, S. & McGrath, J. A., Jun 2005, In: Journal of Dermatological Science. 38, 3, p. 215 - 224 10 p.

    Research output: Contribution to journalArticlepeer-review

  17. Rapid diagnosis of lipoid proteinosis using an anti-extracelluar matrix protein 1 (ECM1) antibody

    Chan, I., South, A. P., McGrath, J. A., Oyama, N., Bhogal, B. S., Black, M. M. & Hamada, T., 2004, In: Journal of Dermatological Science. 35, 2, p. 151 - 153 3 p.

    Research output: Contribution to journalLetterpeer-review

  18. Analysis of antigens targeted by circulating IgG and IgA autoantibodies in 50 patients with cicatricial pemphigoid

    Murakami, H., Nishioka, S., Setterfield, J., Bhogal, B. S., Black, M. M., Zillikens, D., Yancey, K. B., Balding, S. D., Giudice, G. J., Diaz, L. A., Nishikawa, T., Kiyokawa, C. & Hashimoto, T., May 1998, In: Journal of Dermatological Science. 17, 1, p. 39-44 6 p.

    Research output: Contribution to journalArticlepeer-review

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