2018
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Harms, F.L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V.V., Alawi, M., Altmüller, J., Yesodharan, D. and Kutsche, K.
British Journal of Dermatology 179
(5): 1192-1194.
1 November 2018
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Ralser, D.J., Lestringant, G.G., Du-Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F.B.Ü., Wolf, S., Thiele, H., Altmüller, J., Nürnberg, P., Oji, V., Fritz, G., Frank, J. and Betz, R.C.
British Journal of Dermatology 177
(6): e340-e343.
8 January 2018
2012
The tumour suppressor p53 is frequently nonfunctional in Sezary syndrome.
Lamprecht, B., Kreher, S., Moebs, M., Sterry, W., Doerken, B., Janz, M., Assaf, C. and Mathas, S.
British Journal of Dermatology 167
(2): 240-246.
August 2012
2006
Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.
Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S. and Hennies, H.C.
British Journal of Dermatology 154
(1): 167-171.
December 2006
2003
Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis.
Hensen, P., Asadullah, K., Windemuth, C., Rueschendorf, F., Hueffmeier, U., Staender, M., Schmitt-Egenolf, M., Wienker, T.F., Reis, A. and Traupe, H.
British Journal of Dermatology 149
(2): 381-385.
August 2003
2002
HID and KID syndromes are associated with the same connexin 26 mutation.
Van Geel, M., Van Steensel, M.A.M., Kuester, W., Hennies, H.C., Happle, R., Steijlen, P.M. and Koenig, A.
British Journal of Dermatology 146
(2): 938-942.
June 2002
1999
Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia.
Stevens, H.P., Choon, S.E., Hennies, H.C. and Kelsell, D.P.
British Journal of Dermatology 140
(5): 963-964.
24 May 1999
This list was generated on Thu Nov 21 13:51:34 2024 UTC.