Leigh I - Search Results

1

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: leigh i. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300

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. 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

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: 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.

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

6

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. Among authors: leigh im. Nature. 1997 May 1;387(6628):80-3. doi: 10.1038/387080a0. Nature. 1997. PMID: 9139825

7

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA. McGrath JA, et al. Among authors: leigh im. Nat Genet. 1997 Oct;17(2):240-4. doi: 10.1038/ng1097-240. Nat Genet. 1997. PMID: 9326952

8

Role of a p53 polymorphism in the development of human papillomavirus-associated cancer.

Storey A, Thomas M, Kalita A, Harwood C, Gardiol D, Mantovani F, Breuer J, Leigh IM, Matlashewski G, Banks L. Storey A, et al. Among authors: leigh im. Nature. 1998 May 21;393(6682):229-34. doi: 10.1038/30400. Nature. 1998. PMID: 9607760

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: leigh im. Hum Mol Genet. 1999 Jun;8(6):971-6. doi: 10.1093/hmg/8.6.971. Hum Mol Genet. 1999. PMID: 10332028

10

Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism.

Talas U, Dunlop J, Khalaf S, Leigh IM, Kelsell DP. Talas U, et al. Among authors: leigh im. J Invest Dermatol. 2000 Jan;114(1):165-70. doi: 10.1046/j.1523-1747.2000.00825.x. J Invest Dermatol. 2000. PMID: 10620133 Free article.

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