Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell, D. P, Dunlop, J, Stevens, H. P, Lench, N. J, Liang, J. N, Parry, G, Mueller, R. F, Leigh, I. M
Published in Nature (London) (01.05.1997)
Published in Nature (London) (01.05.1997)
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Journal Article
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
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.
Published in British journal of dermatology (1951) (01.05.2007)
Published in British journal of dermatology (1951) (01.05.2007)
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Journal Article
A profile of lipid dysregulation in harlequin ichthyosis
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.
Published in British journal of dermatology (1951) (01.11.2017)
Published in British journal of dermatology (1951) (01.11.2017)
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Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas
EDMUNDS, S. C, CREE, I. A, DI NICOLANTONIO, F, HUNGERFORD, J. L, HURREN, J. S, KELSELL, D. P
Published in British journal of cancer (06.05.2003)
Published in British journal of cancer (06.05.2003)
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Journal Article
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
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
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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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
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
Matos, T.D., Caria, H., Simões-Teixeira, H., Aasen, T., Dias, O., Andrea, M., Kelsell, D.P., Fialho, G.
Published in Hearing research (01.06.2008)
Published in Hearing research (01.06.2008)
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Journal Article
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival
Common, J E A, Di, W-L, Davies, D, Kelsell, D P
Published in Journal of medical genetics (01.07.2004)
Published in Journal of medical genetics (01.07.2004)
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Journal Article
A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
Rajpar, S.F., Cullup, T., Kelsell, D.P., Moss, C.
Published in British journal of dermatology (1951) (01.07.2006)
Published in British journal of dermatology (1951) (01.07.2006)
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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
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
Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy
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.
Published in Cell and tissue research (01.10.2021)
Published in Cell and tissue research (01.10.2021)
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Journal Article
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population
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.
Published in British journal of dermatology (1951) (01.05.2009)
Published in British journal of dermatology (1951) (01.05.2009)
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Journal Article
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)
Common, J. E. A., Bitner-Glindzicz, M., O'Toole, E. A., Barnes, M. R., Jenkins, L., Forge, A., Kelsell, D. P.
Published in Clinical and experimental dermatology (01.11.2005)
Published in Clinical and experimental dermatology (01.11.2005)
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Journal Article
Hereditary 'white nails': a genetic and structural study
Norgett, E.E., Wolf, F., Balme, B., Leigh, I.M., Perrot, H., Kelsell, D.P., Haftek, M.
Published in British journal of dermatology (1951) (01.07.2004)
Published in British journal of dermatology (1951) (01.07.2004)
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Journal Article
Localization of a Gene ( MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43
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.
Published in American journal of human genetics (01.05.2001)
Published in American journal of human genetics (01.05.2001)
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Journal Article
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
Temel, Şehime Gülsün, Karakaş, B., Şeker, Ü., Turkgenç, B., Zorlu, Ö., Sarıcaoğlu, H., Oğur, Ç., Kütük, Ö., Kelsell, D. P., Yakıcıer, M. C.
Published in Cell and tissue research (01.11.2019)
Published in Cell and tissue research (01.11.2019)
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Journal Article
A novel hearing loss-related mutation occurring in the GJB2 basal promoter
Matos, T D, Caria, H, Simões-Teixeira, H, Aasen, T, Nickel, R, Jagger, D J, O’Neill, A, Kelsell, D P, Fialho, G
Published in Journal of medical genetics (01.11.2007)
Published in Journal of medical genetics (01.11.2007)
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