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Page 1
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER. Lim DH, et al. Among authors: van steensel m, van geel m. Hum Mutat. 2010 Jan;31(1):E1043-51. doi: 10.1002/humu.21130. Hum Mutat. 2010. PMID: 19802896
Birt-Hogg-Dube syndrome is a novel ciliopathy.
Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL, van Geel M, Menko FH, Harbottle RP, Nookala RK, Tee AR, Land SC, Giles RH, Coull BJ, van Steensel MA. Luijten MN, et al. Among authors: van steensel ma, van geel m. Hum Mol Genet. 2013 Nov 1;22(21):4383-97. doi: 10.1093/hmg/ddt288. Epub 2013 Jun 19. Hum Mol Genet. 2013. PMID: 23784378 Free PMC article.
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: van steensel ma, van geel m. Hum Mutat. 2017 Apr;38(4):343-356. doi: 10.1002/humu.23164. Epub 2017 Feb 15. Hum Mutat. 2017. PMID: 28035777 Review.
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG, van Hout AF, Cosgun B, Paulussen AD, Leter EM, Steijlen PM, Mosterd K, van Geel M, Gille JJ. Reinders MG, et al. Among authors: van hout af, van geel m. Mol Genet Genomic Med. 2018 May;6(3):409-415. doi: 10.1002/mgg3.380. Epub 2018 Mar 25. Mol Genet Genomic Med. 2018. PMID: 29575684 Free PMC article.
Does recessive EKV exist?
van Steensel MA, van Geel M. van Steensel MA, et al. Among authors: van geel m. J Invest Dermatol. 2005 Jan;124(1):268-9; author reply 270-1. doi: 10.1111/j.0022-202X.2004.23517.x. J Invest Dermatol. 2005. PMID: 15654984 Free article. No abstract available.
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
van Steensel MA, Verstraeten VL, Frank J, Kelleners-Smeets NW, Poblete-Gutiérrez P, Marcus-Soekarman D, Bladergroen RS, Steijlen PM, van Geel M. van Steensel MA, et al. Among authors: van geel m. J Invest Dermatol. 2007 Mar;127(3):588-93. doi: 10.1038/sj.jid.5700592. Epub 2006 Nov 23. J Invest Dermatol. 2007. PMID: 17124507 Free article.
Novel KRT83 and KRT86 mutations associated with monilethrix.
van Steensel M, Vreeburg M, Urbina MT, López P, Morice-Picard F, van Geel M. van Steensel M, et al. Among authors: van geel m. Exp Dermatol. 2015 Mar;24(3):222-4. doi: 10.1111/exd.12624. Exp Dermatol. 2015. PMID: 25557232
205 results