Eady RA - Search Results

1

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

South AP, Ashton GH, Willoughby C, Ellis IH, Bleck O, Hamada T, Mannion G, Wessagowit V, Hashimoto T, Eady RA, McGrath JA. South AP, et al. Among authors: eady ra. Br J Dermatol. 2002 Feb;146(2):216-20. doi: 10.1046/j.1365-2133.2002.04638.x. Br J Dermatol. 2002. PMID: 11903230

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

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.

Mallipeddi R, Bleck O, Mellerio JE, Ashton GH, Eady RA, McGrath JA. Mallipeddi R, et al. Among authors: eady ra. Br J Dermatol. 2003 Oct;149(4):810-8. doi: 10.1046/j.1365-2133.2003.05315.x. Br J Dermatol. 2003. PMID: 14616374

4

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.

Fassihi H, Eady RA, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Denyer JE, Nicolaides KH, Rodeck CH, McGrath JA. Fassihi H, et al. Among authors: eady ra. Br J Dermatol. 2006 Jan;154(1):106-13. doi: 10.1111/j.1365-2133.2005.07012.x. Br J Dermatol. 2006. PMID: 16403102

5

A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.

Ashton GH, Mellerio JE, Dunnill MG, Pulkkinen L, Christiano AM, Uitto J, Eady RA, McGrath JA. Ashton GH, et al. Among authors: eady ra. Br J Dermatol. 1997 May;136(5):674-7. Br J Dermatol. 1997. PMID: 9205497

6

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.

Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, Eady RA, McGrath JA. Mellerio JE, et al. Among authors: eady ra. Br J Dermatol. 1998 Oct;139(4):730-7. doi: 10.1046/j.1365-2133.1998.02496.x. Br J Dermatol. 1998. PMID: 9892921

7

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

8

A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.

Mohammedi R, Mellerio JE, Ashton GH, Eady RA, McGrath JA. Mohammedi R, et al. Among authors: eady ra. Clin Exp Dermatol. 1999 Jan;24(1):37-9. doi: 10.1046/j.1365-2230.1999.00404.x. Clin Exp Dermatol. 1999. PMID: 10233647

9

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.

Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA. Whittock NV, et al. Among authors: eady ra. J Invest Dermatol. 2000 Sep;115(3):368-74. doi: 10.1046/j.1523-1747.2000.00082.x. J Invest Dermatol. 2000. PMID: 10951270 Free article.

10

The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.

Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA. Whittock NV, et al. Among authors: eady ra. J Invest Dermatol. 2000 Oct;115(4):694-8. doi: 10.1046/j.1523-1747.2000.00097.x. J Invest Dermatol. 2000. PMID: 10998145 Free article.

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