Connexin 26 mutations in hereditary non-syndromic sensorineural deafness von Kelsell, D. P, Dunlop, J, Stevens, H. P, Lench, N. J, Liang, J. N, Parry, G, Mueller, R. F, Leigh, I. M

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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients von Mazereeuw-Hautier, J., Bitoun, E., Chevrant-Breton, J., Man, S.Y.K., Bodemer, C., Prins, C., Antille, C., Saurat, J.-H., Atherton, D., Harper, J.I., Kelsell, D.P., Hovnanian, A.

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A profile of lipid dysregulation in harlequin ichthyosis von Ip, S.C.I., Cottle, D.L., Jones, L.K., Weir, J.M., Kelsell, D.P., O'Toole, E.A., Meikle, P.J., Smyth, I.M.

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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype von 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.

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Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas von Edmunds, S C, Cree, I A, Dí Nícolantonío, F, Hungerford, J L, Hurren, J S, Kelsell, D P

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa von 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

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Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31 von Di, Wei-Li, Rugg, Elizabeth L., Leigh, Irene M., Kelsell, David P.

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Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy von Ng, K. E., Delaney, P. J., Thenet, D., Murtough, S., Webb, C. M., Zaman, N., Tsisanova, E., Mastroianni, G., Walker, S. L. M., Westaby, J. D., Pennington, D. J., Pink, R., Kelsell, D. P., Tinker, A.

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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome von Uzumcu, A, Norgett, E E, Dindar, A, Uyguner, O, Nisli, K, Kayserili, H, Sahin, S E, Dupont, E, Severs, N J, Leigh, I M, Yuksel-Apak, M, Kelsell, D P, Wollnik, B

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A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss von Matos, T.D., Caria, H., Simões-Teixeira, H., Aasen, T., Dias, O., Andrea, M., Kelsell, D.P., Fialho, G.

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Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival von Common, J E A, Di, W-L, Davies, D, Kelsell, D P

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A novel ABCA12 mutation underlying a case of Harlequin ichthyosis von Rajpar, S.F., Cullup, T., Kelsell, D.P., Moss, C.

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Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis von Scott, C. A., O'Toole, E. A., Mohungoo, M. J., Messenger, A., Kelsell, D. P.

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Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis von 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.

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A novel homozygous nonsense mutation in CAST associated with PLACK syndrome von Temel, Şehime Gülsün, Karakaş, B., Şeker, Ü., Turkgenç, B., Zorlu, Ö., Sarıcaoğlu, H., Oğur, Ç., Kütük, Ö., Kelsell, D. P., Yakıcıer, M. C.

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Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP von Boente, M. del C., Nanda, A., Baselaga, P.A., Kelsell, D.P., McGrath, J.A., South, A.P.

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A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B von Bland, P.J., Chronnell, C., Plagnol, V., Kayserili, H., Kelsell, D.P.

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Localization of a Gene ( MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43 von Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E.M., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S., Dalziel, K., Calonje, E., Anderson, J., August, P.J., Davies, M.G., Felix, R., Munro, C.S., Murdoch, M., Rendall, J., Kennedy, S., Leigh, I.M., Kelsell, D.P., Tomlinson, I.P.M., Houlston, R.S.

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Acral peeling skin syndrome associated with a novel CSTA gene mutation von Muttardi, K., Nitoiu, D., Kelsell, D. P., O'Toole, E. A., Batta, K.

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Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population von Sinclair, C., O'Toole, E.A., Paige, D., El Bashir, H., Robinson, J., Dobson, R., Lench, N., Stevens, H.P., Hitman, G.A., Booy, R., Mein, C.A., Kelsell, D.P.

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