Ausgewählte Publikationen 2013
Radner FP, Fischer J. The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function. Biochim Biophys Acta. 2013 doi:pii: S1388-1981(13)00151-0. 10.1016/j.bbalip.2013.07.013
Radner FPW, Marrakchi, Kirchmeier P, Kim G-J, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans. Plos Genetics 2013, 9(6):e1003536
D Bornholdt, B Bouadjar, B Catteau, H Cox, D De Silva, Fischer J, S Hadj-Rabia, R Happle, M Holder-Espinasse, E Kaminski, A König, A Mégarbané, H Mégarbané, U Neidel, F Oeffner,V Oji, AT. Prescott, A Theos, H Traupe, A Vahlquist, M Virtanen, B van Bon, K Grzeschik Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat. 2013 Jan 12. doi: 10.1002/humu.22275. [Epub ahead of print]
R.G.L. Nellen, P.M. Steijlen, H.C. Hennies, Fischer J, C.S. Munro, M.F. Jonkman, M.A.M. van Steensel, M. van Geel. Haplotype analysis in Western European patients with Mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. Br J Dermatol. 2013 Jan 5. doi: 10.1111/bjd.12203. [Epub ahead of print]