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Research Outputs

  1. 2017
  2. Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia

    Tziotzios, C., Ainali, C., Holmes, S., Cunningham, F., Lwin, S. M., Palamaras, I., Bhargava, K., Rymer, J., Stefanato, C., Kirkpatrick, N., Vano-Galvan, S., Petridis, C., Fenton, D. A., Simpson, M. A., Onoufriadis, A. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2440-2443

    Research output: Contribution to journalLetter

  3. ATR gene mutations in HPV negative oropharyngeal cancer

    Jeannon, J. P., Tanaka, A., Thavaraj, S., Guerrero-Urbano, T., McGrath, J. A. & Tavassoli, M., 1 Feb 2017, In : ORAL ONCOLOGY. 65, p. 121-123 3 p.

    Research output: Contribution to journalLetter

  4. Acne and Telomere Length: A New Spectrum between Senescence and Apoptosis Pathways

    Ribero, S., Sanna, M., Visconti, A., Navarini, A., Aviv, A., Glass, D., Spector, T. D., Smith, C., Simpson, M., Barker, J., Mangino, M., Falchi, M. & Bataille, V., Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 513-515

    Research output: Contribution to journalLetter

  5. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7

    Takeichi, T., Nomura, T., Takama, H., Kono, M., Sugiura, K., Watanabe, D., Shimizu, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., 23 Jan 2017, In : British Journal of Dermatology.

    Research output: Contribution to journalLetter

  6. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex

    Lee, J. Y. W., Liu, L., Hsu, C-K., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., 19 Jan 2017, In : Journal of Investigative Dermatology. 137, 6, p. 1378-1380

    Research output: Contribution to journalLetter

  7. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing

    Saito, R., Boyce, A., Hsu, C., Rashidghamat, E., Hide, M., Wedgeworth, E. K., Flohr, C., Mellerio, J. E. & Mcgrath, J. A., 1 Jan 2017, In : British Journal of Dermatology. 176, 1, p. 249-251

    Research output: Contribution to journalLetter

  8. 2016
  9. Hidradenitis suppurativa: Haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro

    Pink, A. E., Dafou, D., Desai, N., Holmes, O., Hobbs, C., Smith, C. H., Mortimer, P., Simpson, M. A., Trembath, R. C. & Barker, J. N., 28 Jul 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalLetter

  10. Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

    Lwin, S. M., Hsu, C-K., McMillan, J. R., Mellerio, J. E. & McGrath, J. A., 25 May 2016, In : JAMA dermatology.

    Research output: Contribution to journalLetter

  11. Finasteride is of uncertain utility in treating frontal fibrosing alopecia

    Tziotzios, C., Fenton, D. A., Stefanato, C. M. & McGrath, J. A., Apr 2016, In : Journal of the American Academy of Dermatology. 74, 4, p. e73-e74

    Research output: Contribution to journalLetter

  12. 2015
  13. Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

    Petrof, G., Lwin, S. M., Martinez-Queipo, M., Abdul-Wahab, A., Tso, S., Mellerio, J. E., Slaper-Cortenbach, I., Boelens, J. J., Tolar, J., Veys, P., Ofuya, M., Peacock, J., Martinez, A. E. & McGrath, J. A., Sep 2015, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalLetter

  14. Familial frontal fibrosing alopecia

    Tziotzios, C., Fenton, D. A., Stefanato, C. M. & McGrath, J. A., Jul 2015, In : Journal of the American Academy of Dermatology. 73, 1, p. e37

    Research output: Contribution to journalLetter

  15. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

    Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., McLean, W. H. I., Munro, C. S. & Zamiri, M., 12 May 2015, In : British Journal of Dermatology. 173, 5

    Research output: Contribution to journalLetter

  16. 2014
  17. Psoriatic arthritis screening tools: study design and methodologic challenges - reply from authors

    Coates, L. C., Aslam, T., Al Balushi, F., Burden, A. D., Burden-Teh, E., Caperon, A. R., Cerio, R., Chattopadhyay, C., Chinoy, H., Goodfield, M. J. D., Kay, L., Kelly, S., Kirkham, B., Lovell, C. R., Marzo-Ortega, H., McHugh, N., Murphy, R., Reynolds, N. J., Smith, C. H., Stewart, E. J. C. & 4 others, Warren, R. B., Waxman, R., Wilson, H. E. & Helliwell, P. S., Apr 2014, In : British Journal of Dermatology. 170, 4, p. 995-996 2 p.

    Research output: Contribution to journalLetter

  18. The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

    Has, C., Kiritsi, D., Mellerio, J. E., Franzke, C-W., Wedgeworth, E., Tantcheva-Poor, I., Kernland-Lang, K., Itin, P., Simpson, M. A., Dopping-Hepenstal, P. J., Fujimoto, W., McGrath, J. A. & Bruckner-Tuderman, L., Mar 2014, In : Journal of Investigative Dermatology. 134, 3, p. 845-849 5 p., N/A.

    Research output: Contribution to journalLetter

  19. Generalized Pustular Eruptions: Time to Adapt the Disease Taxonomy to the Genetic Architecture?

    Navarini, A. A., Valeyrie-Allanore, L., Setta-Kaffetzi, N., Barker, J. N., Capon, F., Creamer, D., Roujeau, J-C., Sekula, P., Simpson, M. A., Trembath, R. C., Mockenhaupt, M. & Smith, C. H., Feb 2014, In : Journal of Investigative Dermatology. 134, 2, p. 580-581 2 p.

    Research output: Contribution to journalLetter

  20. Loss of IL36RN Function Does Not Confer Susceptibility to Psoriasis Vulgaris

    Berki, D. M., Mahil, S. K., David Burden, A., Trembath, R. C., Smith, C. H., Capon, F. & Barker, J. N., Jan 2014, In : Journal of Investigative Dermatology. 134, 1, p. 271-273 3 p.

    Research output: Contribution to journalLetter

  21. 2013
  22. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

    Samuelov, L., Sarig, O., Harmon, R. M., Rapaport, D., Ishida-Yamamoto, A., Isakov, O., Koetsier, J. L., Gat, A., Goldberg, I., Bergman, R., Spiegel, R., Eytan, O., Geller, S., Peleg, S., Shomron, N., Goh, C. S. M., Wilson, N. J., Smith, F. J. D., Pohler, E., Simpson, M. A. & 6 others, McLean, W. H. I., Irvine, A. D., Horowitz, M., McGrath, J. A., Green, K. J. & Sprecher, E., Oct 2013, In : Nature Genetics. 45, 10, p. 1244-1248 6 p., N/A.

    Research output: Contribution to journalLetter

  23. Rare Variations in IL36RN in Severe Adverse Drug Reactions Manifesting as Acute Generalized Exanthematous Pustulosis

    Navarini, A. A., Valeyrie-Allanore, L., Setta-Kaffetzi, N., Barker, J. N., Capon, F., Creamer, D., Roujeau, J-C., Sekula, P., Simpson, M. A., Trembath, R. C., Mockenhaupt, M. & Smith, C. H., Jul 2013, In : Journal of Investigative Dermatology. 133, 7, p. 1904-1907 4 p.

    Research output: Contribution to journalLetter

  24. Rare Pathogenic Variants in IL36RN Underlie a Spectrum of Psoriasis-Associated Pustular Phenotypes

    Setta-Kaffetzi, N., Navarini, A. A., Patel, V. M., Pullabhatla, V., Pink, A., Choon, S-E., Allen, M. A., Burden, A. D., Griffiths, C. E. M., Seyger, M. M. B., Kirby, B., Trembath, R. C., Simpson, M. A., Smith, C. H., Capon, F. & Barker, J. N., 10 Jan 2013, In : Journal of Investigative Dermatology. 133, 5, p. 1366-1369 4 p.

    Research output: Contribution to journalLetter

  25. 2012
  26. Case of Kindler syndrome resulting from mutation in the FERMT1 gene

    Wada, M., Masuda, K., Tsuruta, D., Tamai, K., Lai-Cheong, J. E., McGrath, J. A. & Katoh, N., Dec 2012, In : The Australasian journal of dermatology. 39, 12, p. 1057-1058 2 p., N/A.

    Research output: Contribution to journalLetter

  27. Twenty top tips to triumph in dermatology

    Finlay, A. Y., Griffiths, C. E. M. & McGrath, J. A., Aug 2012, In : British Journal of Dermatology. 167, 2, p. 445-446 3 p.

    Research output: Contribution to journalLetter

  28. Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

    Smith, F. J. D., Wilson, N. J., Moss, C., Dopping-Hepenstal, P. & McGrath, J., Apr 2012, In : British Journal of Dermatology. 166, 4, p. 894 - 896 3 p.

    Research output: Contribution to journalLetter

  29. Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

    Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M. & McGrath, J. A., Mar 2012, In : Journal of Investigative Dermatology. 132, 3, p. 742 - 744 3 p.

    Research output: Contribution to journalLetter

  30. Revertant Mosaicism in Kindler Syndrome

    Lai-Cheong, J. E., Moss, C., Parsons, M., Almaani, N. & McGrath, J. A., Mar 2012, In : Journal of Investigative Dermatology. 132, 3, p. 730 - 732 3 p.

    Research output: Contribution to journalLetter

  31. 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 journalLetter

  32. 2011
  33. Extracellular matrix protein 1 autoantibodies in male genital lichen sclerosus

    Edmonds, E. V. J., Oyama, N., Chan, I., Francis, N., McGrath, J. A. & Bunker, C. B., Jul 2011, In : British Journal of Dermatology. 165, 1, p. 218 - 219 2 p., N/A.

    Research output: Contribution to journalLetter

  34. Intra-familial Variability of Ectodermal Defects Associated with WNT10A Mutations

    Wedgeworth, E. K., Nagy, N., White, J. M. L., Pembroke, A. C. & McGrath, J. A., May 2011, In : Acta Dermato-Venereologica. 91, 3, p. 346 - 347 2 p.

    Research output: Contribution to journalLetter

  35. 2010
  36. The development of sarcoidosis on antitumour necrosis factor therapy: a paradox

    Pink, A. E., Fonia, A., Smith, C. H. & Barker, J. N. W. N., Sep 2010, In : British Journal of Dermatology. 163, 3, p. 648 - 649 2 p.

    Research output: Contribution to journalLetter

  37. Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa

    Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. J. C., Lai-Cheong, J. E., Clements, S. E., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., Jul 2010, In : Journal of Investigative Dermatology. 130, 7, p. 1937 - 1940 4 p.

    Research output: Contribution to journalLetter

  38. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

    El-Kamah, G. Y., Fong, K., El-Ruby, M., Affifi, H. H., Clements, S. E., Lai-Cheong, J. E., Amr, K., El-Darouti, M. & McGrath, J. A., Jul 2010, In : British Journal of Dermatology. 163, 1, p. 213 - 215 3 p.

    Research output: Contribution to journalLetter

  39. Identification of a Homozygous Deletion Mutation in C16orf57 in a Family With Clericuzio-Type Poikiloderma With Neutropenia

    Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A. & McGrath, J., Jun 2010, In : American Journal of Medical Genetics. Part A. 152A, 6, p. 1347 - 1348 2 p.

    Research output: Contribution to journalLetter

  40. 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 journalLetter

  41. 2009
  42. 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 journalLetter

  43. 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 journalLetter

  44. 2007
  45. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome

    Martignago, B. C. F., Lai-Cheong, J. E., Liu, L., McGrath, J. A. & Cestari, T. F., Dec 2007, In : British Journal of Dermatology. 157, 6, p. 1281 - 1284 4 p.

    Research output: Contribution to journalLetter

  46. Five new homozygous mutations in the KIND1 gene in Kindler syndrome

    Lai-Cheong, J. E., Liu, L., Sethuraman, G., Kumar, R., Sharma, V. K., Reddy, S. R., Vahlquist, A., Pather, S., Arita, K., Wessagowit, V. & McGrath, J. A., Sep 2007, In : Journal of Investigative Dermatology. 127, 9, p. 2268 - 2270 3 p.

    Research output: Contribution to journalLetter

  47. The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1

    Arita, K., Jacyk, W. K., Wessagowit, V., van Rensburg, E. J., Chaplin, T., Mein, C. A., Akiyama, M., Shimizu, H., Happle, R. & McGrath, J. A., Feb 2007, In : Journal of Investigative Dermatology. 127, 2, p. 490 - 493 4 p.

    Research output: Contribution to journalLetter

  48. 2006
  49. 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 journalLetter

  50. 2005
  51. Infantile acquired zinc deficiency resembling acrodermatitis enteropathica.

    Chew, A. L., Chan, I., McGrath, J. A. & Atherton, D. J., Sep 2005, In : Clinical and Experimental Dermatology. 30, 5, p. 594 - 595 2 p.

    Research output: Contribution to journalLetter

  52. 2004
  53. An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene

    Chan, I., Bingewar, G., Patil, K., Nayak, C., Wadhwa, S. L. & McGrath, J. A., Sep 2004, In : British Journal of Dermatology. 151, 3, p. 726 - 727 2 p.

    Research output: Contribution to journalLetter

  54. Molecular basis of lipoid proteinosis in two Indian siblings

    Chan, I., Sethuraman, G., Sharma, V. K., Bruning, E., Hamada, T. & McGrath, J. A., Sep 2004, In : Journal of Dermatology. 31, 9, p. 764 - 766 3 p.

    Research output: Contribution to journalLetter

  55. 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 journalLetter

  56. 2002
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