Leigh IM - Search Results

1

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. Blaydon DC, et al. Among authors: leigh im. Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830519 Free PMC article.

2

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB. Rugg EL, et al. Among authors: leigh im. Nat Genet. 1993 Nov;5(3):294-300. doi: 10.1038/ng1193-294. Nat Genet. 1993. PMID: 7506097

3

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.

Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM. Navsaria HA, et al. Among authors: leigh im. J Invest Dermatol. 1995 Mar;104(3):425-9. doi: 10.1111/1523-1747.ep12666011. J Invest Dermatol. 1995. PMID: 7532198 Free article.

4

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. Among authors: leigh im. Hum Mol Genet. 1995 Jun;4(6):1021-5. doi: 10.1093/hmg/4.6.1021. Hum Mol Genet. 1995. PMID: 7544664

5

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: leigh im. J Invest Dermatol. 1996 Apr;106(4):795-7. doi: 10.1111/1523-1747.ep12346400. J Invest Dermatol. 1996. PMID: 8618025 Free article.

6

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: leigh im. Arch Dermatol. 1996 Jun;132(6):640-51. Arch Dermatol. 1996. PMID: 8651714 Review.

7

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: leigh im. Nat Genet. 1996 Aug;13(4):450-7. doi: 10.1038/ng0896-450. Nat Genet. 1996. PMID: 8696340

8

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: leigh im. Br J Dermatol. 1996 Apr;134(4):720-6. Br J Dermatol. 1996. PMID: 8733379

9

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. Among authors: leigh im. Hum Mol Genet. 1996 Jun;5(6):857-60. doi: 10.1093/hmg/5.6.857. Hum Mol Genet. 1996. PMID: 8776604

10

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Smith FJ, et al. Among authors: leigh im. J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315. J Invest Dermatol. 1997. PMID: 9008238 Free article.

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