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212 results

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ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Ruiz-Perez VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P, Vahlquist A, Gobello T, Mazzanti C, Reggazini R, Nagy G, Munro CS, Strachan T. Ruiz-Perez VL, et al. Among authors: steijlen pm. Hum Mol Genet. 1999 Sep;8(9):1621-30. doi: 10.1093/hmg/8.9.1621. Hum Mol Genet. 1999. PMID: 10441324
Melanocortin 1 receptor variants in an Irish population.
Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, Rogers S, Turner R, Jackson IJ, Birch-Machin MA, Rees JL. Smith R, et al. Among authors: steijlen pm. J Invest Dermatol. 1998 Jul;111(1):119-22. doi: 10.1046/j.1523-1747.1998.00252.x. J Invest Dermatol. 1998. PMID: 9665397 Free article.
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Hamada T, et al. Among authors: steijlen pm. Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833. Hum Mol Genet. 2002. PMID: 11929856
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. van Steensel M, et al. Among authors: steijlen pm. Am J Hum Genet. 1999 Aug;65(2):413-9. doi: 10.1086/302506. Am J Hum Genet. 1999. PMID: 10417283 Free PMC article.
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Sandilands A, et al. Among authors: steijlen pm. Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8. Nat Genet. 2007. PMID: 17417636
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Nellen RG, Steijlen PM, van Steensel MA, Vreeburg M; European Professional Contributors; Frank J, van Geel M. Nellen RG, et al. Among authors: steijlen pm. Hum Mutat. 2017 Apr;38(4):343-356. doi: 10.1002/humu.23164. Epub 2017 Feb 15. Hum Mutat. 2017. PMID: 28035777 Review.
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: steijlen pm. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
212 results