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Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA. Boyden LM, et al. Among authors: elias pm. Hum Mol Genet. 2016 Jan 15;25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604139 Free PMC article.
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. McAleer MA, et al. Among authors: elias pm. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12. J Allergy Clin Immunol. 2015. PMID: 26073755 Free PMC article.
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E. Chan A, et al. Among authors: elias pm. Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16. Mol Genet Metab. 2011. PMID: 21982627 Free PMC article.
Enlightened therapy of the disorders of cornification.
Williams ML, Elias PM. Williams ML, et al. Among authors: elias pm. Clin Dermatol. 2003 Jul-Aug;21(4):269-73. doi: 10.1016/s0738-081x(03)00059-2. Clin Dermatol. 2003. PMID: 14572696 Review. No abstract available.
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML; PeDRA Use of Retinoids in Ichthyosis Work Group. Zaenglein AL, et al. Pediatr Dermatol. 2021 Jan;38(1):164-180. doi: 10.1111/pde.14408. Epub 2020 Nov 10. Pediatr Dermatol. 2021. PMID: 33169909 Free PMC article.
583 results