Leigh IM - Search Results

1

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

2

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Kelsell DP, et al. Among authors: leigh im. Eur J Hum Genet. 2000 Feb;8(2):141-4. doi: 10.1038/sj.ejhg.5200407. Eur J Hum Genet. 2000. Corrected and republished in: Eur J Hum Genet. 2000 Jun;8(6):469-72. doi: 10.1038/sj.ejhg.5200510 PMID: 10757647 Corrected and republished.

3

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Kelsell DP, et al. Among authors: leigh im. Eur J Hum Genet. 2000 Jun;8(6):469-72. doi: 10.1038/sj.ejhg.5200510. Eur J Hum Genet. 2000. PMID: 10888284

4

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Norgett EE, et al. Among authors: leigh im. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761. Hum Mol Genet. 2000. PMID: 11063735

5

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: leigh im. Eur J Hum Genet. 2001 Mar;9(3):197-203. doi: 10.1038/sj.ejhg.5200605. Eur J Hum Genet. 2001. PMID: 11313759

6

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

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. 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

8

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE. Armstrong DK, et al. Among authors: leigh im. Hum Mol Genet. 1999 Jan;8(1):143-8. doi: 10.1093/hmg/8.1.143. Hum Mol Genet. 1999. PMID: 9887343

9

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP. Blaydon DC, et al. Among authors: leigh im. Am J Hum Genet. 2012 Feb 10;90(2):340-6. doi: 10.1016/j.ajhg.2011.12.008. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265016 Free PMC article.

10

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.

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