Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
McMillan, J.R., Akiyama, M., Rouan, F., Mellerio, J.E., Lane, E.B., Leigh, I.M., Owaribe, K., Wiche, G., Fujii, N., Uitto, J., Eady, R.A.J., Shimizu, H.
Published in Muscle & nerve (01.01.2007)
Published in Muscle & nerve (01.01.2007)
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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
McGrath, John A, McMillan, James R, Shemanko, Carrie S, Runswick, Sarah K, Leigh, Irene M, Lane, E. Birgitte, Garrod, David R, Eady, Robin A.J
Published in Nature genetics (01.10.1997)
Published in Nature genetics (01.10.1997)
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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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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
Lane, E. B, Rugg, E. L, Navsaria, H, Leigh, I. M, Heagerty, A. H. M, Ishida-Yamamoto, A, Eady, R. A. J
Published in Nature (London) (19.03.1992)
Published in Nature (London) (19.03.1992)
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Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
McGrath, JA, Gatalica, B, Li, K, Dunnill, MG, McMillan, JR, Christiano, AM, Eady, RA, Uitto, J
Published in The American journal of pathology (01.06.1996)
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Published in The American journal of pathology (01.06.1996)
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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
Hamada, T., South, A. P., Mitsuhashi, Y., Kinebuchi, T., Bleck, O., Ashton, G. H. S., Hozumi, Y., Suzuki, T., Hashimoto, T., Eady, R. A. J., McGrath, J. A.
Published in Experimental dermatology (01.04.2002)
Published in Experimental dermatology (01.04.2002)
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Retrospective diagnosis of Kindler syndrome in a 37-year-old man
Thomson, M. A., Ashton, G. H. S., McGrath, J. A., Eady, R. A. J., Moss, C.
Published in Clinical and experimental dermatology (01.01.2006)
Published in Clinical and experimental dermatology (01.01.2006)
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Psoriasis bullosa acquisita
Morris, S. D., Mallipeddi, R., Oyama, N., Gratian, M. J., Harman, K. E., Bhogal, B. S., Black, M. M., Eady, R. A. J., Hashimoto, T., McGrath, J. A.
Published in Clinical and experimental dermatology (01.11.2002)
Published in Clinical and experimental dermatology (01.11.2002)
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Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa
FINE, J.-D, EADY, R. A. J, MCGUIRE, J, MOSHELL, A, SHIMIZU, H, TADINI, G, UITTO, J, BAUER, E. A, BRIGGAMAN, R. A, BRUCKNER-TUDERMAN, L, CHRISTIANO, A, HEAGERTY, A, HINTNER, G. H, JONKMAN, M. F, MCGRATH, J
Published in Journal of the American Academy of Dermatology (01.06.2000)
Published in Journal of the American Academy of Dermatology (01.06.2000)
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New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens
Whittock, N.V., Ashton, G.H.S., Griffiths, W.A.D., Eady, R.A.J., McGRATH, J.A.
Published in British journal of dermatology (1951) (01.08.2001)
Published in British journal of dermatology (1951) (01.08.2001)
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Genomic organization and amplification of the human plakoglobin gene (JUP)
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Conference Proceeding
Prenatal diagnosis for severe inherited skin disorders: 25 years' experience
Fassihi, H., Eady, R.A.J., Mellerio, J.E., Ashton, G.H.S., Dopping-Hepenstal, P.J.C., Denyer, J.E., Nicolaides, K.H., Rodeck, C.H., McGrath, J.A.
Published in British journal of dermatology (1951) (01.01.2006)
Published in British journal of dermatology (1951) (01.01.2006)
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Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma
Armstrong, D. Keith B., McKenna, Kevin E., Purkis, Patricia E., Green, Kathleen J., Eady, Robin A. J., Leigh, Irene M., Hughes, Anne E.
Published in Human molecular genetics (01.01.1999)
Published in Human molecular genetics (01.01.1999)
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Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy
HARMAN, K. E, BHOGAL, B. S, EADY, R. A. J, MCGRATH, J. A, BLACK, M. M
Published in British journal of dermatology (1951) (01.09.1999)
Published in British journal of dermatology (1951) (01.09.1999)
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Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1
Wessagowit, V., Ashton, G. H. S., Mohammedi, R., Salas-Alanis, J. C., Denyer, J. E., Mellerio, J. E., Eady, R. A. J., McGrath, J. A.
Published in Clinical and experimental dermatology (01.01.2001)
Published in Clinical and experimental dermatology (01.01.2001)
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Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
McGrath, John A, Gatalica, Biljana, Christiano, Angela M, si, Kehua, Owaribe, Katsushi, McMillan, James R, Eady, Robin A.J, Uitto, Jouni
Published in Nature genetics (01.09.1995)
Published in Nature genetics (01.09.1995)
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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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