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Maurice van Steensel
Maurice van Steensel
Skin Research Institute of Singapore, A*STAR and Lee Kong Chian School of Medicine, Singapore
Verified email at sris.a-star.edu.sg
Title
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Cited by
Year
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
V Oji, G Tadini, M Akiyama, CB Bardon, C Bodemer, E Bourrat, ...
Journal of the American Academy of Dermatology 63 (4), 607-641, 2010
8772010
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
A Sandilands, A Terron-Kwiatkowski, PR Hull, GM O'Regan, TH Clayton, ...
Nature genetics 39 (5), 650-654, 2007
8002007
Birt-Hogg-Dubé syndrome: diagnosis and management
FH Menko, MAM Van Steensel, S Giraud, L Friis-Hansen, S Richard, ...
The lancet oncology 10 (12), 1199-1206, 2009
6442009
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
A Irrthum, K Devriendt, D Chitayat, G Matthijs, C Glade, PM Steijlen, ...
The American Journal of Human Genetics 72 (6), 1470-1478, 2003
4802003
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
T Hamada, WHI McLean, M Ramsay, GHS Ashton, A Nanda, T Jenkins, ...
Human molecular genetics 11 (7), 833-840, 2002
3792002
Familial pityriasis rubra pilaris is caused by mutations in CARD14
D Fuchs-Telem, O Sarig, MAM van Steensel, O Isakov, S Israeli, ...
The American Journal of Human Genetics 91 (1), 163-170, 2012
2812012
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies
WH De Vos, F Houben, M Kamps, A Malhas, F Verheyen, J Cox, ...
Human molecular genetics 20 (21), 4175-4186, 2011
2732011
Clinical and pathological features of pachyonychia congenita
SA Leachman, RL Kaspar, P Fleckman, SR Florell, FJD Smith, ...
Journal of Investigative Dermatology Symposium Proceedings 10 (1), 3-17, 2005
2432005
Molecular aetiology and pathogenesis of basal cell carcinoma
C Tilli, MAM Van Steensel, GAM Krekels, HAM Neumann, ...
British Journal of Dermatology 152 (6), 1108-1124, 2005
2282005
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
DL Smit, AR Mensenkamp, S Badeloe, MH Breuning, MEH Simon, ...
Clinical genetics 79 (1), 49-59, 2011
2202011
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ...
Nature genetics 41 (2), 228-233, 2009
2192009
Framework nucleic acids as programmable carrier for transdermal drug delivery
C Wiraja, Y Zhu, DCS Lio, DC Yeo, M Xie, W Fang, Q Li, M Zheng, ...
Nature communications 10 (1), 1147, 2019
1892019
A novel connexin 26 mutation in a patient diagnosed with keratitis–ichthyosis–deafness syndrome
MAM van Steensel, M van Geel, PM Steijlen, M Nahuys, JH Smitt
Journal of investigative dermatology 118 (4), 724-727, 2002
1822002
Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
AC Houweling, LM Gijezen, MA Jonker, MBA van Doorn, RA Oldenburg, ...
British journal of cancer 105 (12), 1912-1919, 2011
1782011
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
AJ Cassidy, MAM van Steensel, PM Steijlen, M van Geel, ...
The American Journal of Human Genetics 77 (6), 909-917, 2005
1782005
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
WHI McLean, AD Irvine, KJ Hamill, NV Whittock, CM Coleman-Campbell, ...
Human molecular genetics 12 (18), 2395-2409, 2003
1712003
Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg
RJ Damstra, MAM Van Steensel, JHB Boomsma, P Nelemans, J Veraart
British Journal of Dermatology 158 (6), 1210-1215, 2008
1572008
HID and KID syndromes are associated with the same connexin 26 mutation
M Van Geel, MAM Van Steensel, W Küster, HC Hennies, R Happle, ...
British Journal of Dermatology 146 (6), 938-942, 2002
1522002
The pathogenesis of hemangiomas: a review
CG Bauland, MAM van Steensel, PM Steijlen, PNMA Rieu, ...
Plastic and reconstructive surgery 117 (2), 29e-35e, 2006
1472006
The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation
M Yan, MC Gingras, EA Dunlop, Y Nouët, F Dupuy, Z Jalali, E Possik, ...
The Journal of clinical investigation 124 (6), 2640-2650, 2014
1422014
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