Homeostasis of the sebaceous gland and mechanisms of acne pathogenesis
Clayton, R.W., Göbel, K., Niessen, C.M., Paus, R., Steensel, M.A.M., Lim, X.
Published in British journal of dermatology (1951) (01.10.2019)
Published in British journal of dermatology (1951) (01.10.2019)
Get full text
Journal Article
What does acne genetics teach us about disease pathogenesis?
Common, J.E.A., Barker, J.N., Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.10.2019)
Published in British journal of dermatology (1951) (01.10.2019)
Get full text
Journal Article
Novel CLDN1 mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease
Nagtzaam, I.F., Peeters, V.P.M., Vreeburg, M., Wagner, A., Steijlen, P.M., Geel, M., Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.03.2018)
Published in British journal of dermatology (1951) (01.03.2018)
Get full text
Journal Article
CYLD mutations differentially affect splicing and mRNA decay in Brooke–Spiegler syndrome
Parren, L.J.M.T., Baron, J.M., Joussen, S., Marquardt, Y., Hanneken, S., Steensel, M.A.M., Steijlen, P.M., Geel, M., Frank, J.
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2018)
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2018)
Get full text
Journal Article
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris
Eytan, O., Qiaoli, L., Nousbeck, J., van Steensel, M.A.M., Burger, B., Hohl, D., Taïeb, A., Prey, S., Bachmann, D., Avitan-Hersh, E., Jin Chung, H., Shemer, A., Trau, H., Bergman, R., Fuchs-Telem, D., Warshauer, E., Israeli, S., Itin, P.H., Sarig, O., Uitto, J., Sprecher, E.
Published in British journal of dermatology (1951) (01.05.2014)
Published in British journal of dermatology (1951) (01.05.2014)
Get full text
Journal Article
Novel missense mutations in the FOXC2 gene alter transcriptional activity
van Steensel, M.A.M, Damstra, R.J, Heitink, M, Bladergroen, R.S, Veraart, J, Steijlen, Peter M, van Geel, M
Published in Human mutation (01.12.2009)
Published in Human mutation (01.12.2009)
Get full text
Journal Article
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron
van Steensel, M.A.M., Oranje, A.P., van der Schroeff, J.G., Wagner, A., van Geel, M.
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
Get full text
Journal Article
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5
Badeloe, S., Van Geel, M., Nagtzaam, I., Rubio-Gozalbo, M.E., Oei, R.L., Steijlen, P.M., Van Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.06.2008)
Published in British journal of dermatology (1951) (01.06.2008)
Get full text
Journal Article
Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4‐related autoinflammatory disease, expansion of the phenotype
Volker‐Touw, C.M.L., Koning, H.D., Giltay, J. C., Kovel, C.G.F., Kempen, T.S., Oberndorff, K.M.E.J, Boes, M.L., Steensel, M.A.M., Well, G.T.J., Blokx, W.A.M., Schalkwijk, J., Simon, A., Frenkel, J., Gijn, M.E.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
Get full text
Journal Article
Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC 4 ‐related autoinflammatory disease, expansion of the phenotype
Volker‐Touw, C.M.L., Koning, H.D., Giltay, J. C., Kovel, C.G.F., Kempen, T.S., Oberndorff, K.M.E.J, Boes, M.L., Steensel, M.A.M., Well, G.T.J., Blokx, W.A.M., Schalkwijk, J., Simon, A., Frenkel, J., Gijn, M.E.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
Get full text
Journal Article
Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
Preston, R S, Philp, A, Claessens, T, Gijezen, L, Dydensborg, A B, Dunlop, E A, Harper, K T, Brinkhuizen, T, Menko, F H, Davies, D M, Land, S C, Pause, A, Baar, K, van Steensel, M A M, Tee, A R
Published in Oncogene (10.03.2011)
Published in Oncogene (10.03.2011)
Get full text
Journal Article
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene: Correspondence
Nellen, R.G.L., Steijlen, P.M., Hennies, H.C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A.M., van Geel, M.
Published in British journal of dermatology (1951) (01.06.2013)
Published in British journal of dermatology (1951) (01.06.2013)
Get full text
Journal Article
Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg
Damstra, R.J., Van Steensel, M.A.M., Boomsma, J.H.B., Nelemans, P., Veraart, J.C.J.M.
Published in British journal of dermatology (1951) (01.06.2008)
Published in British journal of dermatology (1951) (01.06.2008)
Get full text
Journal Article
Gap junction diseases of the skin: Am J Med Genet 131C: 12-19
van Steensel, M.A.M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2006)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2006)
Get full text
Journal Article
Molecular aetiology and pathogenesis of basal cell carcinoma
Tilli, C.M.L.J., Van Steensel, M.A.M., Krekels, G.A.M., Neumann, H.A.M., Ramaekers, F.C.S.
Published in British journal of dermatology (1951) (01.06.2005)
Published in British journal of dermatology (1951) (01.06.2005)
Get full text
Journal Article