Mellerio JE - Search Results

1

Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.

Doolan BJ, Gomaa NS, Fawzy MM, Dogheim NN, Liu L, Mellerio JE, Onoufriadis A, McGrath JA. Doolan BJ, et al. Among authors: mellerio je. Exp Dermatol. 2020 Jun;29(6):520-530. doi: 10.1111/exd.14096. Epub 2020 May 25. Exp Dermatol. 2020. PMID: 32248567 Review.

2

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: mellerio je. Br J Dermatol. 1997 May;136(5):674-7. Br J Dermatol. 1997. PMID: 9205497

3

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. J Invest Dermatol. 1997 Aug;109(2):246-9. doi: 10.1111/1523-1747.ep12319792. J Invest Dermatol. 1997. PMID: 9242516 Free article.

4

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.

Mellerio JE, Smith FJ, McMillan JR, McLean WH, McGrath JA, Morrison GA, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RA. Mellerio JE, et al. Br J Dermatol. 1997 Dec;137(6):898-906. Br J Dermatol. 1997. PMID: 9470905

5

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.

Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH. Corden LD, et al. Among authors: mellerio je. Hum Mutat. 1998;11(4):279-85. doi: 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9554744

6

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.

Mellerio JE, Denyer JE, Atherton DJ, Eady RA, McGrath JA. Mellerio JE, et al. Br J Dermatol. 1998 Apr;138(4):661-6. doi: 10.1046/j.1365-2133.1998.02182.x. Br J Dermatol. 1998. PMID: 9640376

7

Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.

Salas-Alanis JC, Mellerio JE, Amaya-Guerra M, Ashton GH, Eady RA, McGrath JA. Salas-Alanis JC, et al. Among authors: mellerio je. Br J Dermatol. 1998 May;138(5):852-8. doi: 10.1046/j.1365-2133.1998.02225.x. Br J Dermatol. 1998. PMID: 9666834

8

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.

Mellerio JE, Eady RA, Atherton DJ, Lake BD, McGrath JA. Mellerio JE, et al. Br J Dermatol. 1998 Aug;139(2):325-31. doi: 10.1046/j.1365-2133.1998.02377.x. Br J Dermatol. 1998. PMID: 9767254

9

Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.

Cserhalmi-Friedman PB, McGrath JA, Mellerio JE, Romero R, Salas-Alanis JC, Paller AS, Dietz HC, Christiano AM. Cserhalmi-Friedman PB, et al. Among authors: mellerio je. Lab Invest. 1998 Dec;78(12):1483-92. Lab Invest. 1998. PMID: 9881948

10

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. Br J Dermatol. 1998 Oct;139(4):730-7. doi: 10.1046/j.1365-2133.1998.02496.x. Br J Dermatol. 1998. PMID: 9892921

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

198 results

Search Page

Filters