Maurice van Steensel
Maurice van Steensel
Skin Research Institute of Singapore, A*STAR and Lee Kong Chian School of Medicine, Singapore
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Zitiert von
Zitiert von
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
The pathogenesis of hemangiomas: a review
CG Bauland, MAM van Steensel, PM Steijlen, PNMA Rieu, ...
Plastic and reconstructive surgery 117 (2), 29e-35e, 2006
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
Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro
CS Wright, MAM Van Steensel, MB Hodgins, PEM Martin
Wound repair and regeneration 17 (2), 240-249, 2009
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
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