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Page 1
Next generation diagnostics of heritable connective tissue disorders.
Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA. Salam A, et al. Among authors: simpson ma. Matrix Biol. 2014 Jan;33:35-40. doi: 10.1016/j.matbio.2013.06.004. Epub 2013 Jul 26. Matrix Biol. 2014. PMID: 23896220 Free article. Review.
Next-generation diagnostics for genodermatoses.
Cho RJ, Simpson MA, McGrath JA. Cho RJ, et al. Among authors: simpson ma. J Invest Dermatol. 2012 Nov 15;132(E1):E27-8. doi: 10.1038/skinbio.2012.8. J Invest Dermatol. 2012. PMID: 23154629 Free article. Review. No abstract available.
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Samuelov L, et al. Among authors: simpson ma. Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974871 Free PMC article.
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L. Has C, et al. Among authors: simpson ma. J Invest Dermatol. 2014 Mar;134(3):845-849. doi: 10.1038/jid.2013.367. Epub 2013 Sep 4. J Invest Dermatol. 2014. PMID: 24005051 Free 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: simpson ma. 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.
399 results