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 and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis
Thomas, A.C., Sinclair, C., Mahmud, N., Cullup, T., Mellerio, J.E., Harper, J., Dale, B.A., Turc-Carel, C., Hohl, D., McGrath, J.A., Vahlquist, A., Hellstrom-Pigg, M., Ganemo, A., Metcalfe, K., Mein, C.A., O'Toole, E.A, Kelsell, D.P.
Published in British journal of dermatology (1951) (01.03.2008)
Published in British journal of dermatology (1951) (01.03.2008)
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Journal Article
Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype
Maruthappu, T., Posafalvi, A., Castelletti, S., Delaney, P.J., Syrris, P., O'Toole, E.A., Green, K.J., Elliott, P.M., Lambiase, P.D., Tinker, A., McKenna, W.J., Kelsell, D.P.
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
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
Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature
Bodemer, C., Steijlen, P., Mazereeuw‐Hautier, J., O'Toole, E.A.
Published in British journal of dermatology (1951) (01.03.2021)
Published in British journal of dermatology (1951) (01.03.2021)
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Journal Article
680 A role for the basement membrane in skin lipid trafficking
Jones, E., Marsh, S., O'Shaughnessy, R., Aumailley, M., O'Toole, E.A., Caley, M.P.
Published in Journal of investigative dermatology (01.05.2018)
Published in Journal of investigative dermatology (01.05.2018)
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Journal Article
661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
Enjalbert, F., Dewan, P., Caley, M.P., Fell, B., Morse, M., Kelsell, D., Enright, A., O'Toole, E.A.
Published in Journal of investigative dermatology (01.05.2018)
Published in Journal of investigative dermatology (01.05.2018)
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Journal Article
Management of congenital ichthyoses: European guidelines of care, part one
Mazereeuw‐Hautier, J., Vahlquist, A., Traupe, H., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc‐Voljc, M., Dreyfus, I., El Hachem, M., Fischer, J., Gånemo, A., Gouveia, C., Gruber, R., Hadj‐Rabia, S., Hohl, D., Jonca, N., Ezzedine, K., Maier, D., Malhotra, R., Rodriguez, M., Ott, H., Paige, D.G., Pietrzak, A., Poot, F., Schmuth, M., Sitek, J.C., Steijlen, P., Wehr, G., Moreen, M., O'Toole, E.A., Oji, V., Hernandez‐Martin, A.
Published in British journal of dermatology (1951) (01.02.2019)
Published in British journal of dermatology (1951) (01.02.2019)
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Journal Article
Update on pachyonychia congenita research
Funk, T., Hansen, C.D., Paller, A., O'Toole, E.A.
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
Management of congenital ichthyoses: European guidelines of care, part two
Mazereeuw‐Hautier, J., Hernández‐Martín, A., O'Toole, E.A., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc‐Voljč, M., Dreyfus, I., El Hachem, M., Fischer, J., Ganemo, A., Gouveia, C., Gruber, R., Hadj‐Rabia, S., Hohl, D., Jonca, N., Ezzedine, K., Maier, D., Malhotra, R., Rodriguez, M., Ott, H., Paige, D.G., Pietrzak, A., Poot, F., Schmuth, M., Sitek, J.C., Steijlen, P., Wehr, G., Moreen, M., Vahlquist, A., Traupe, H., Oji, V.
Published in British journal of dermatology (1951) (01.03.2019)
Published in British journal of dermatology (1951) (01.03.2019)
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Journal Article
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
Simpson, J.K., Martinez‐Queipo, M., Onoufriadis, A., Tso, S., Glass, E., Liu, L., Higashino, T., Scott, W., Tierney, C., Simpson, M.A., Desomchoke, R., Youssefian, L., SaeIdian, A.H, Vahidnezhad, H., Bisquera, A., Ravenscroft, J., Moss, C., O'Toole, E.A., Burrows, N., Leech, S., Jones, E.A., Lim, D., Ilchyshyn, A., Goldstraw, N., Cork, M.J., Darne, S., Uitto, J., Martinez, A.E., Mellerio, J.E., McGrath, J.A.
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
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
Distinctive clinical and histological characteristics of atrophic and hypertrophic facial photoageing
Langton, A.K., Ayer, J., Griffiths, T.W., Rashdan, E., Naidoo, K., Caley, M.P., Birch‐Machin, M.A., O'Toole, E.A., Watson, R.E.B., Griffiths, C.E.M.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2021)
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Journal Article
DSP 突变与致心律失常性心肌病
Maruthappu, T., Posafalvi, A., Castelletti, S., Delaney, P.J., Syrris, P., O'Toole, E.A., Green, K.J., Elliott, P.M., Lambiase, P.D., Tinker, A., McKenna, W.J., Kelsell, D.P.
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