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Page 1
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Among authors: kelsell dp. Br J Dermatol. 2008 Mar;158(3):611-3. doi: 10.1111/j.1365-2133.2007.08277.x. Epub 2007 Nov 6. Br J Dermatol. 2008. PMID: 17986308 No abstract available.
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Küster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS. Hunt DM, et al. Among authors: kelsell dp. Eur J Hum Genet. 2001 Mar;9(3):197-203. doi: 10.1038/sj.ejhg.5200605. Eur J Hum Genet. 2001. PMID: 11313759
Hereditary 'white nails': a genetic and structural study.
Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP, Haftek M. Norgett EE, et al. Among authors: kelsell dp. Br J Dermatol. 2004 Jul;151(1):65-72. doi: 10.1111/j.1365-2133.2004.05994.x. Br J Dermatol. 2004. PMID: 15270873
Connexin mutations in human disease.
Kelsell DP. Kelsell DP. Exp Dermatol. 2004 Oct;13(10):661-2. doi: 10.1111/j.0906-6705.2004.0250f.x. Exp Dermatol. 2004. PMID: 15447731 No abstract available.
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.
185 results