Mellerio JE - Search Results

1

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Among authors: mellerio je. Br J Dermatol. 2008 Mar;158(3):611-3. doi: 10.1111/j.1365-2133.2007.08277.x. Epub 2007 Nov 6. Br J Dermatol. 2008. PMID: 17986308 No abstract available.

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

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

10

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA. Mellerio JE, et al. Br J Dermatol. 1998 Nov;139(5):862-71. doi: 10.1046/j.1365-2133.1998.02515.x. Br J Dermatol. 1998. PMID: 9892956

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