The molecular genetic analysis of the expanding pachyonychia congenita case collection
Wilson, N.J., O'Toole, E.A., 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.
Published in British journal of dermatology (1951) (01.08.2014)
Published in British journal of dermatology (1951) (01.08.2014)
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Journal Article
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
Pohler, E., Huber, M., Boonen, S.E., Zamiri, M., Gregersen, P.A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W.H.I., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.08.2014)
Published in British journal of dermatology (1951) (01.08.2014)
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Journal Article
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis
Li, M., Li, Z., Wang, J., Ni, C., Sun, Z., Wilson, N.J., Zhang, J., Chen, F., Li, X., Du, X., Yu, H., Zhang, L., Smith, F.J.D., Zhang, G., Yao, Z.
Published in Journal of the European Academy of Dermatology and Venereology (01.09.2016)
Published in Journal of the European Academy of Dermatology and Venereology (01.09.2016)
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Journal Article
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c)
Wee, J.S., Smith, F.J.D., Wilson, N.J., O'Toole, E.A.
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2016)
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2016)
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Journal Article
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.
Published in British journal of dermatology (1951) (01.11.2015)
Published in British journal of dermatology (1951) (01.11.2015)
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Journal Article
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.
Published in British journal of dermatology (1951) (01.04.2012)
Published in British journal of dermatology (1951) (01.04.2012)
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Journal Article
Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults
Basu, K., Palmer, C. N. A., Lipworth, B. J., Irwin McLean, W. H., Terron‐Kwiatkowski, A., Zhao, Y., Liao, H., Smith, F. J. D., Mitra, A., Mukhopadhyay, S.
Published in Allergy (Copenhagen) (01.09.2008)
Published in Allergy (Copenhagen) (01.09.2008)
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Journal Article
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
Samuelov, L., Smith, F.J.D., Hansen, C.D., Sprecher, E.
Published in British journal of dermatology (1951) (01.03.2020)
Published in British journal of dermatology (1951) (01.03.2020)
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Journal Article
Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation
Harris, K., Hull, P.R., Hansen, C.D., Smith, F.J.D., McLean, W.H.I., Arbiser, J.L., Leachman, S.A.
Published in British journal of dermatology (1951) (01.01.2012)
Published in British journal of dermatology (1951) (01.01.2012)
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Journal Article
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma
Zamiri, M., Smith, F.J.D., Campbell, L.E., Tetley, L., Eady, R.A.J., Hodgins, M.B., McLean, W.H.I., Munro, C.S.
Published in British journal of dermatology (1951) (01.09.2009)
Published in British journal of dermatology (1951) (01.09.2009)
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Journal Article
Chronic pain in pachyonychia congenita: evidence for neuropathic origin
Brill, S., Sprecher, E., Smith, F.J.D., Geva, N., Gruener, H., Nahman‐Averbuch, H., Defrin, R.
Published in British journal of dermatology (1951) (01.07.2018)
Published in British journal of dermatology (1951) (01.07.2018)
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Journal Article
A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2
Smith, Frances J. D., Jonkman, Marcel F., van Goor, Harry, Coleman, Carrie M., Covello, Seana P., Uitto, Jouni, McLean, W. H. Irwin
Published in Human molecular genetics (01.07.1998)
Published in Human molecular genetics (01.07.1998)
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Journal Article
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB
Zamiri, M., Wilson, N.J., Mackenzie, A., Sobey, G., Leitch, C., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.05.2019)
Published in British journal of dermatology (1951) (01.05.2019)
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Journal Article
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
Zamiri, M., Wilson, N.J., O'Toole, E.A., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.09.2019)
Published in British journal of dermatology (1951) (01.09.2019)
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Journal Article
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
Vodo, D., O'Toole, E.A., Malchin, N., Lahav, A., Adir, N., Sarig, O., Green, K.J., Smith, F.J.D., Sprecher, E.
Published in British journal of dermatology (1951) (01.09.2018)
Published in British journal of dermatology (1951) (01.09.2018)
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Journal Article
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening
Lovgren, M.‐L., McAleer, M.A., Irvine, A.D., Wilson, N.J., Tavadia, S., Schwartz, M.E., Cole, C., Sandilands, A., Smith, F.J.D., Zamiri, M.
Published in British journal of dermatology (1951) (01.05.2017)
Published in British journal of dermatology (1951) (01.05.2017)
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Journal Article
Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium
Rittié, L., Kaspar, R.L., Sprecher, E., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.05.2017)
Published in British journal of dermatology (1951) (01.05.2017)
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Journal Article