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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 3
2013 7
2014 12
2015 4
2016 1
2024 0

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22 results

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Page 1
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. 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.
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. 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.
Reliability and validity of genotyping filaggrin null mutations.
Margolis DJ, Apter AJ, Mitra N, Gupta J, Hoffstad O, Papadopoulos M, Rebbeck TR, MacCallum S, Campbell LE, Sandilands A, McLean WH. Margolis DJ, et al. J Dermatol Sci. 2013 Apr;70(1):67-8. doi: 10.1016/j.jdermsci.2012.11.594. Epub 2012 Dec 7. J Dermatol Sci. 2013. PMID: 23274172 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. 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 clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S. Mercier S, et al. Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. Orphanet J Rare Dis. 2015. PMID: 26471370 Free PMC article.
22 results