Eady RA - Search Results

1

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. Among authors: eady ra. 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.

2

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: eady ra. 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.

3

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP. Hatsell SJ, et al. Among authors: eady ra. J Invest Dermatol. 2001 Apr;116(4):606-9. doi: 10.1046/j.1523-1747.2001.13041234.x. J Invest Dermatol. 2001. PMID: 11286630 Free article.

4

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

5

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

6

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Hamada T, et al. Among authors: eady ra. Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833. Hum Mol Genet. 2002. PMID: 11929856

7

Transmission electron microscopy for the diagnosis of epidermolysis bullosa.

Eady RA, Dopping-Hepenstal PJ. Eady RA, et al. Dermatol Clin. 2010 Apr;28(2):211-22, vii. doi: 10.1016/j.det.2009.12.001. Dermatol Clin. 2010. PMID: 20447483 Review.

8

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: eady ra. Nat Genet. 1997 Oct;17(2):240-4. doi: 10.1038/ng1097-240. Nat Genet. 1997. PMID: 9326952

9

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: eady ra. Hum Mol Genet. 1999 Jan;8(1):143-8. doi: 10.1093/hmg/8.1.143. Hum Mol Genet. 1999. PMID: 9887343

10

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.

McGrath JA, Hoeger PH, Christiano AM, McMillan JR, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Lake BD, Leigh IM, Harper JI, Eady RA. McGrath JA, et al. Among authors: eady ra. Br J Dermatol. 1999 Feb;140(2):297-307. doi: 10.1046/j.1365-2133.1999.02667.x. Br J Dermatol. 1999. PMID: 10233227

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

242 results

Search Page

Filters