Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations von Szczecinska, W., Nesteruk, D., Wertheim-Tysarowska, K., Greenblatt, D.T., Baty, D., Browne, F., Liu, L., Ozoemena, L., Terron-Kwiatkowski, A., McGrath, J.A., Mellerio, J.E., Morton, J., Woźniak, K., Kowalewski, C., Has, C., Moss, C.

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Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10 von Foo, S. H., Terron‐Kwiatkowski, A., Baty, D., Browne, F.

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Congenital reticular ichthyosiform erythroderma von Dvorakova, V., Watson, R. M., Terron-Kwiatkowski, A., Andrew, N., Irvine, A. D.

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Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults von Basu, K., Palmer, C. N. A., Lipworth, B. J., Irwin McLean, W. H., Terron‐Kwiatkowski, A., Zhao, Y., Liao, H., Smith, F. J. D., Mitra, A., Mukhopadhyay, S.

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Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene von Terron-Kwiatkowski, A., Terrinoni, A., Didona, B., Melino, G., Atherton, D.J., Irvine, A.D., McLean, W.H.I.

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris von McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

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Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis von Baty, D, Terron Kwiatkowski, A, Mechan, D, Harris, A, Pippard, M J, Goudie, D

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Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1 von Terron-Kwiatkowski, Ana, Atherton, David J., Irwin McLean, W.H., Irvine, Alan D., Paller, Amy S., Compton, John

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Cutaneous Biology : Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene von Terron-Kwiatkowski, A, Terrinoni, A, Didona, B, Melino, G, Atherton, D, Irvine, A, Mclean, W

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A novel keratin 13 variant in a four-generation family with white sponge nevus von Haseth, S.B. de, Bakker, E., Vermeer, M.H., Idrissi, H. el, Bosse, T., Smit, V.T.H.B.M., Terron-Kwiatkowski, A., McLean, W.H.I., Peters, A.A.W., Hes, F.J.

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Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10 von Foo, S H, Terron-Kwiatkowski, A, Baty, D, Browne, F

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Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis von Sandilands, Aileen, O'Regan, Gráinne M., Liao, Haihui, Zhao, Yiwei, Terron-Kwiatkowski, Ana, Watson, Rosemarie M., Cassidy, Andrew J., Goudie, David R., Smith, Frances J.D., Irwin McLean, W.H., Irvine, Alan D.

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Filaggrin null mutations are associated with increased asthma severity in children and young adults von Palmer, Colin N.A., PhD, Ismail, Tahmina, MBBS, MSc, Lee, Simon P., MSc, Terron-Kwiatkowski, Ana, PhD, Zhao, Yiwei, MD, Liao, Haihui, MD, Smith, Frances J.D., PhD, McLean, W.H. Irwin, PhD, DSc, FRSE, Mukhopadhyay, Somnath, FRCPCH, PhD

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A novel keratin 13 variant in a four‐generation family with white sponge nevus von Haseth, Stephanie B., Bakker, Egbert, Vermeer, Maarten H., Idrissi, Hakima, Bosse, Tjalling, Smit, Vincent T.H.B.M., Terron‐Kwiatkowski, Anna, McLean, W.H. Irwin, Peters, Alexander A.W., Hes, Frederik J.

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis von McLean, W H Irwin, Palmer, Colin N A, Irvine, Alan D, Terron-Kwiatkowski, Ana, Zhao, Yiwei, Liao, Haihui, Lee, Simon P, Goudie, David R, Sandilands, Aileen, Campbell, Linda E, Smith, Frances J D, O'Regan, Gráinne M, Watson, Rosemarie M, Cecil, Jo E, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Fleckman, Philip, Lewis-Jones, Sue, Arseculeratne, Gehan, Sergeant, Ann, Munro, Colin S, El Houate, Brahim, McElreavey, Ken, Halkjaer, Liselotte B, Bisgaard, Hans, Mukhopadhyay, Somnath

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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema von van Steensel, Maurice A M, Hull, Peter R, Palmer, Colin N A, Clayton, Timothy H, Sandilands, Aileen, Evans, Alan T, Bradley, Daniel G, Nagtzaam, Ivo, Campbell, Linda E, Terron-Kwiatkowski, Ana, Carrick, Thomas, Irvine, Alan D, Liao, Haihui, O'Regan, Gráinne M, Steijlen, Peter M, Gruber, Robert, Watson, Rosemarie M, Elias, Peter M, Schmuth, Matthias, McLean, W H Irwin, van Geel, Michel, Munro, Colin S, Smith, Frances J D, Zhao, Yiwei, Janecke, Andreas R

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Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma von Badowski, Cedric, Sim, Adelene Y.L., Verma, Chandra, Szeverényi, Ildikó, Natesavelalar, Chidambaram, Terron-Kwiatkowski, Ana, Harper, John, O’Toole, Edel A., Lane, E. Birgitte

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The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex von Sathishkumar, Dharshini, Orrin, Elizabeth, Terron-Kwiatkowski, Ana, Browne, Fiona, Martinez, Anna E., Mellerio, Jemima E., Ogboli, Malobi, Hoey, Susannah, Ozoemena, Linda, Liu, Lu, Baty, David, McGrath, John A., Moss, Celia

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Filaggrin Null Alleles Are Not Associated with Psoriasis von Zhao, Yiwei, Terron-Kwiatkowski, Ana, Liao, Haihui, Lee, Simon P., Allen, Michael H., Hull, Peter R., Campbell, Linda E., Trembath, Richard C., Capon, Francesca, Griffiths, Christopher E.M., Burden, David, McManus, Ross, Hughes, Rosalind, Kirby, Brian, Rogers, Sarah F., Fitzgerald, Oliver, Kane, David, Barker, Jonathan N.W.N., Palmer, Colin N.A., Irvine, Alan D., Irwin McLean, W.H.

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Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin von Terron-Kwiatkowski, Ana, van Steensel, Maurice A.M., van Geel, Michel, Lane, E. Birgitte, McLean, W.H. Irwin, Steijlen, Peter M

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