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
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
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
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
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
Leigh, I.M, Bryant, S.P, Milana, G, Kirtschig, G, Pulkkinen, L, Smith, F.J.D, McLean, W.H.I, Eady, R.A.J, Spurr, N.K, Owaribe, K, McMillan, J.R, Lane, E.B, Geddes, J.F, de Bono, A.G, Uitto, J, Wiche, G, Kelsell, D.P, Rugg, E.L
Published in Nature genetics (01.08.1996)
Published in Nature genetics (01.08.1996)
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Journal Article
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
Rugg, E.L, Morley, S.M, Smith, F.J.D, Boxer, M, Tidman, M.J, Navsaria, H, Leigh, I.M, Lane, E.B
Published in Nature genetics (01.11.1993)
Published in Nature genetics (01.11.1993)
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Journal Article
Focal PPK secondary to a novel KRT 6C 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
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
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
Mutations in POGLUT 1 in Galli–Galli/Dowling–Degos disease
Wilson, N.J., Cole, C., Kroboth, K., Hunter, W.N., Mann, J.A., McLean, W.H.I., Kernland Lang, K., Beltraminelli, H., Sabroe, R.A., Tiffin, N., Sobey, G.J., Borradori, L., Simpson, E., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
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Journal Article
Mutations in POGLUT1 in Galli–Galli/Dowling–Degos disease
Wilson, N.J., Cole, C., Kroboth, K., Hunter, W.N., Mann, J.A., McLean, W.H.I., Kernland Lang, K., Beltraminelli, H., Sabroe, R.A., Tiffin, N., Sobey, G.J., Borradori, L., Simpson, E., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
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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
Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation: Transgrediens pachyonychia congenita
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
Mutations in GJB6 causing phenotype resembling pachyonychia congenita
Hale, G.I., Wilson, N.J., Smith, F.J.D., Wylie, G., Schwartz, M.E., Zamiri, M.
Published in British journal of dermatology (1951) (01.05.2015)
Published in British journal of dermatology (1951) (01.05.2015)
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