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13 results

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Page 1
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Pohler E, et al. Among authors: aristodemou s. Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22. Br J Dermatol. 2015. PMID: 25965869 Free PMC article. No abstract available.
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA. Campbell P, et al. Among authors: aristodemou s. J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1. J Invest Dermatol. 2014. PMID: 24691054 Free PMC article.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Petrof G, et al. Among authors: aristodemou s. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152456 Free PMC article.
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.
Lee JYW, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA. Lee JYW, et al. Among authors: aristodemou s. J Invest Dermatol. 2017 Jun;137(6):1378-1380. doi: 10.1016/j.jid.2017.01.004. Epub 2017 Jan 19. J Invest Dermatol. 2017. PMID: 28111128 Free article. No abstract available.
Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Rashidghamat E, Kadiyirire T, Ayis S, Petrof G, Liu L, Pullabhatla V, Ainali C, Guy A, Aristodemou S, McMillan JR, Ozoemena L, Mee J, Pramanik R, Saxena A, Nuamah R, de Rinaldis E, Serrano S, Maurin C, Martinez-Queipo M, Lwin SM, Ilic D, Martinez A, Dazzi F, Slaper-Cortenbach I, Westinga K, Zeddies S, van den Broek M, Onoufriadis A, Mellerio JE, McGrath JA. Rashidghamat E, et al. Among authors: aristodemou s. J Am Acad Dermatol. 2020 Aug;83(2):447-454. doi: 10.1016/j.jaad.2019.11.038. Epub 2019 Nov 28. J Am Acad Dermatol. 2020. PMID: 31786163 Free article. Clinical Trial.
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA. Lwin SM, et al. Among authors: aristodemou s. JCI Insight. 2019 Jun 6;4(11):e126243. doi: 10.1172/jci.insight.126243. eCollection 2019 Jun 6. JCI Insight. 2019. PMID: 31167965 Free PMC article. Clinical Trial.
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