| 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 | 879 | 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 | 803 | 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 | 648 | 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 | 480 | 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 | 382 | 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 | 281 | 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 | 277 | 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 | 242 | 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 | 226 | 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 | 221 | 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 | 217 | 2009 |
| 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 | 192 | 2019 |
| 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 | 181 | 2002 |
| 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 | 179 | 2005 |
| 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 | 178 | 2011 |
| 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 | 173 | 2003 |
| 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 | 157 | 2008 |
| 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 | 149 | 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 | 146 | 2006 |
| 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 | 142 | 2014 |
Patricia E MartinReader in Cell biology, Glasgow Caledonian University在 gcu.ac.uk 的电子邮件经过验证
