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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Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family
Takeichi, T., Nanda, A., Aristodemou, S., McMillan, J.R., Lee, J., Akiyama, M., Al-Ajmi, H., Simpson, M.A., McGrath, J.A.
Published in British journal of dermatology (1951) (01.05.2015)
Published in British journal of dermatology (1951) (01.05.2015)
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Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait
Takeichi, T., Nanda, A., Liu, L., Aristodemou, S., McMillan, J.R., Sugiura, K., Akiyama, M., Al-Ajmi, H., Simpson, M.A., McGrath, J.A.
Published in British journal of dermatology (1951) (01.02.2015)
Published in British journal of dermatology (1951) (01.02.2015)
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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
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory
Takeichi, T., Liu, L., Fong, K., Ozoemena, L., McMillan, J.R., Salam, A., Campbell, P., Akiyama, M., Mellerio, J.E., McLean, W.H.I., Simpson, M.A., McGrath, J.A.
Published in British journal of dermatology (1951) (01.01.2015)
Published in British journal of dermatology (1951) (01.01.2015)
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Journal Article
Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait
Takeichi, T., Nanda, A., Liu, L., Aristodemou, S., McMillan, J.R., Sugiura, K., Akiyama, M., Al‐Ajmi, H., Simpson, M.A., McGrath, J.A.
Published in British journal of dermatology (1951) (01.02.2015)
Published in British journal of dermatology (1951) (01.02.2015)
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Journal Article
Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family
Takeichi, T., Nanda, A., Aristodemou, S., McMillan, J.R., Lee, J., Akiyama, M., Al‐Ajmi, H., Simpson, M.A., McGrath, J.A.
Published in British journal of dermatology (1951) (01.05.2015)
Published in British journal of dermatology (1951) (01.05.2015)
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Journal Article
Mutations in EXPH5 result in autosomal recessive inherited skin fragility
Liu, L., Mellerio, J.E., Martinez, A.E., McMillan, J.R., Aristodemou, S., Parsons, M., McGrath, J.A.
Published in British journal of dermatology (1951) (01.01.2014)
Published in British journal of dermatology (1951) (01.01.2014)
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Journal Article
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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Journal Article
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens
Tsubota, A., Akiyama, M., Sakai, K., Yanagi, T., McMillan, J.R., Higashi, A., Shimizu, H.
Published in British journal of dermatology (1951) (01.01.2008)
Published in British journal of dermatology (1951) (01.01.2008)
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Journal Article
A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
Akiyama, M., Sakai, K., Wolff, G., Hausser, I., McMillan, J.R., Sawamura, D., Shimizu, H.
Published in British journal of dermatology (1951) (01.11.2006)
Published in British journal of dermatology (1951) (01.11.2006)
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Journal Article
Gap junction development in the human fetal hair follicle and bulge region
Arita, K., Akiyama, M., Tsuji, Y., Mcmillan, J.R., Eady, R.A.J., Shimizu, H.
Published in British journal of dermatology (1951) (01.03.2004)
Published in British journal of dermatology (1951) (01.03.2004)
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Journal Article
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases
MELLERIO, J.E., SMITH, F.J.D., McMILLAN, J.R., McLEAN, W.H.I., McGRATH, J.A., MORRISON, G.A.J., TIERNEY, P., ALBERT, D.M., WICHE, G., LEIGH, I.M., GEDDES, J.F., LANE, E.B., UITTO, J., EADY, R.A.J.
Published in British journal of dermatology (1951) (01.12.1997)
Published in British journal of dermatology (1951) (01.12.1997)
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Journal Article
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases
MELLERIO, J.E., SMITH, F.J.D., McMILLAN, J.R., McLEAN, W.H.I., McGRATH, J.A., MORRISON, G.A.J., TIERNEY, P., ALBERT, D.M., WICHE, G., LEIGH, I.M., GEDDES, J.F., LANE, E.B., UITTO, J., EADY, R.A.J.
Published in British journal of dermatology (1951) (01.12.1997)
Published in British journal of dermatology (1951) (01.12.1997)
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Journal Article
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation
MCMILLAN, J.R., MCGRATH, J.A., PULKKINEN, L., KON, A., BURGESON, R.E., ORTONNE, J-P., MENEGUZZI, G., UITTO, J., EADY, R.A.J.
Published in British journal of dermatology (1951) (1997)
Published in British journal of dermatology (1951) (1997)
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Journal Article
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation
MCMILLAN, J.R., MCGRATH, J.A., PULKKINEN, L., KON, A., BURGESON, R.E., ORTONNE, J-P., MENEGUZZI, G., UITTO, J., EADY, R.A.J.
Published in British journal of dermatology (1951) (01.06.1997)
Published in British journal of dermatology (1951) (01.06.1997)
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