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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: cole c. 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.
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ. Wilson NJ, et al. Among authors: cole c. Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24. Br J Dermatol. 2017. PMID: 27479915 Free PMC article. No abstract available.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Pohler E, et al. Among authors: cole c. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064416 Free PMC article.
Expanding the Phenotypic Spectrum of Olmsted Syndrome.
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, Irwin McLean WH, Smith FJD. Wilson NJ, et al. Among authors: cole c. J Invest Dermatol. 2015 Nov;135(11):2879-2883. doi: 10.1038/jid.2015.217. Epub 2015 Jun 12. J Invest Dermatol. 2015. PMID: 26067147 Free PMC article. No abstract available.
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: cole c. 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.
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: cole c. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.
Elias MS, Wright SC, Remenyi J, Abbott JC, Bray SE, Cole C, Edwards S, Gierlinski M, Glok M, McGrath JA, Nicholson WV, Paternoster L, Prescott AR, Have ST, Whitfield PD, Lamond AI, Brown SJ. Elias MS, et al. Among authors: cole c. J Allergy Clin Immunol. 2019 Aug;144(2):470-481. doi: 10.1016/j.jaci.2019.05.024. Epub 2019 May 31. J Allergy Clin Immunol. 2019. PMID: 31158401 Free PMC article.
1,484 results