Eady RA - Search Results

1

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Ashton GH, et al. Among authors: eady ra. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. J Invest Dermatol. 2004. PMID: 14962093 Free article.

2

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.

Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA. Hamada T, et al. Among authors: eady ra. Exp Dermatol. 2002 Apr;11(2):107-14. doi: 10.1034/j.1600-0625.2002.110202.x. Exp Dermatol. 2002. PMID: 11994137

3

Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

Thomson MA, Ashton GH, McGrath JA, Eady RA, Moss C. Thomson MA, et al. Among authors: eady ra. Clin Exp Dermatol. 2006 Jan;31(1):45-7. doi: 10.1111/j.1365-2230.2005.01930.x. Clin Exp Dermatol. 2006. PMID: 16309479

4

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA. Whittock NV, et al. Among authors: eady ra. J Invest Dermatol. 2002 Feb;118(2):232-8. doi: 10.1046/j.0022-202x.2001.01664.x. J Invest Dermatol. 2002. PMID: 11841538 Free article.

5

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA. Dunnill MG, et al. Among authors: eady ra. J Invest Dermatol. 1996 Aug;107(2):171-7. doi: 10.1111/1523-1747.ep12329570. J Invest Dermatol. 1996. PMID: 8757758 Free article.

6

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.

Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA. Mellerio JE, et al. Among authors: eady ra. J Invest Dermatol. 1997 Aug;109(2):246-9. doi: 10.1111/1523-1747.ep12319792. J Invest Dermatol. 1997. PMID: 9242516 Free article.

7

Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.

Ashton GH, Mellerio JE, Dunnill MG, Milana G, Mayou BJ, Carrera J, McGrath JA, Eady RA. Ashton GH, et al. Among authors: eady ra. Clin Exp Dermatol. 1999 May;24(3):232-5. doi: 10.1046/j.1365-2230.1999.00461.x. Clin Exp Dermatol. 1999. PMID: 10354186

8

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

Mellerio JE, Ashton GH, Mohammedi R, Lyon CC, Kirby B, Harman KE, Salas-Alanis JC, Atherton DJ, Harrison PV, Griffiths WA, Black MM, Eady RA, McGrath JA. Mellerio JE, et al. Among authors: eady ra. J Invest Dermatol. 1999 Jun;112(6):984-7. doi: 10.1046/j.1523-1747.1999.00614.x. J Invest Dermatol. 1999. PMID: 10383749 Free article.

9

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.

McGrath JA, Ishida-Yamamoto A, O'Grady A, Leigh IM, Eady RA. McGrath JA, et al. Among authors: eady ra. J Invest Dermatol. 1993 Apr;100(4):366-72. doi: 10.1111/1523-1747.ep12471830. J Invest Dermatol. 1993. PMID: 8454899 Free article.

10

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA. Whittock NV, et al. Among authors: eady ra. J Invest Dermatol. 2002 May;118(5):838-44. doi: 10.1046/j.1523-1747.2002.01750.x. J Invest Dermatol. 2002. PMID: 11982762 Free article.

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