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The British Journal of Ophthalmology|January 30, 2002
Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucomaC J Cobb, G Scott, R J Swingler, et al.
The British Journal of Dermatology|June 25, 2004
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 geneA Terron-Kwiatkowski, A Terrinoni, B Didona, et al.
The British Journal of Dermatology|December 8, 2010
Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of ageC Flohr, K England, S Radulovic, et al.
The British Journal of Dermatology|August 23, 2018
Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell-related immunity and angiogenesisM A McAleer, I Jakasa, G Hurault, et al.
The British Journal of Dermatology|October 9, 2012
Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitisM J Visser, L Landeck, L E Campbell, et al.
The British Journal of Dermatology|August 26, 2004
Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South AfricaW Van Hougenhouck-Tulleken, I Chan, T Hamada, et al.
The British Journal of Dermatology|August 18, 2009
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school childrenS J Brown, C L Relton, H Liao, et al.
Allergy|January 29, 2014
Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutationsM Kono, T Nomura, Y Ohguchi, et al.
The British Journal of Dermatology|July 28, 2011
Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentationK Harris, P R Hull, C D Hansen, et al.
The British Journal of Dermatology|December 31, 2013
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli diseaseA K Reisenauer, S V Wordingham, J York, et al.
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