Kelsell DP - Search Results

1

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.

Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP. Wilgoss A, et al. Among authors: kelsell dp. J Invest Dermatol. 1999 Dec;113(6):1119-22. doi: 10.1046/j.1523-1747.1999.00792.x. J Invest Dermatol. 1999. PMID: 10594760 Free article.

2

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.

Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM, Spurr NK. Kelsell DP, et al. Hum Mol Genet. 1995 Jun;4(6):1021-5. doi: 10.1093/hmg/4.6.1021. Hum Mol Genet. 1995. PMID: 7544664

3

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RP, Spurr NK, Leigh IM. Stevens HP, et al. Among authors: kelsell dp. J Invest Dermatol. 1996 Apr;106(4):795-7. doi: 10.1111/1523-1747.ep12346400. J Invest Dermatol. 1996. PMID: 8618025 Free article.

4

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM. Stevens HP, et al. Among authors: kelsell dp. Arch Dermatol. 1996 Jun;132(6):640-51. Arch Dermatol. 1996. PMID: 8651714 Review.

5

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.

Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB. Smith FJ, et al. Among authors: kelsell dp. Nat Genet. 1996 Aug;13(4):450-7. doi: 10.1038/ng0896-450. Nat Genet. 1996. PMID: 8696340

6

Punctate palmoplantar keratoderma and malignancy in a four-generation family.

Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, Rustin MH. Stevens HP, et al. Among authors: kelsell dp. Br J Dermatol. 1996 Apr;134(4):720-6. Br J Dermatol. 1996. PMID: 8733379

7

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).

Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK, Field JK. Kelsell DP, et al. Hum Mol Genet. 1996 Jun;5(6):857-60. doi: 10.1093/hmg/5.6.857. Hum Mol Genet. 1996. PMID: 8776604

8

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Kelsell DP, et al. Nature. 1997 May 1;387(6628):80-3. doi: 10.1038/387080a0. Nature. 1997. PMID: 9139825

9

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.

Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS. Rickman L, et al. Among authors: kelsell dp. Hum Mol Genet. 1999 Jun;8(6):971-6. doi: 10.1093/hmg/8.6.971. Hum Mol Genet. 1999. PMID: 10332028

10

Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.

Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MH, Leigh IM. Kelsell DP, et al. Exp Dermatol. 1999 Oct;8(5):388-91. doi: 10.1111/j.1600-0625.1999.tb00387.x. Exp Dermatol. 1999. PMID: 10536965

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