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Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies M Wassef, F Blei, D Adams, A Alomari, E Baselga, A Berenstein, ... Pediatrics 136 (1), e203-e214, 2015 | 1320 | 2015 |
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Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2 M Vikkula, LM Boon, KLC Iii, JT Calvert, AJ Diamonti, B Goumnerov, ... Cell 87 (7), 1181-1190, 1996 | 941 | 1996 |
Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations I Eerola, LM Boon, JB Mulliken, PE Burrows, A Dompmartin, S Watanabe, ... The American Journal of Human Genetics 73 (6), 1240-1249, 2003 | 797 | 2003 |
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome TC Pansuriya, R van Eijk, P d'Adamo, MAJH van Ruler, ML Kuijjer, ... Nature genetics 43 (12), 1256-1261, 2011 | 573 | 2011 |
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis B Lorenz-Depiereux, M Bastepe, A Benet-Pagès, M Amyere, ... Nature genetics 38 (11), 1248-1250, 2006 | 559 | 2006 |
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase A Irrthum, MJ Karkkainen, K Devriendt, K Alitalo, M Vikkula The American Journal of Human Genetics 67 (2), 295-301, 2000 | 513 | 2000 |
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 |
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations N Limaye, V Wouters, M Uebelhoer, M Tuominen, R Wirkkala, JB Mulliken, ... Nature genetics 41 (1), 118-124, 2009 | 460 | 2009 |
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ... Human mutation 29 (7), 959-965, 2008 | 448 | 2008 |
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus M Vikkula, ECM Madman, VCH Lui, NI Zhidkova, GE Tiller, MB Goldring, ... Cell 80 (3), 431-437, 1995 | 440 | 1995 |
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma M Jinnin, D Medici, L Park, N Limaye, Y Liu, E Boscolo, J Bischoff, ... Nature medicine 14 (11), 1236-1246, 2008 | 426 | 2008 |
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities LM Boon, JB Mulliken, O Enjolras, M Vikkula Archives of dermatology 140 (8), 971-976, 2004 | 365 | 2004 |
Genetics of lymphatic anomalies P Brouillard, L Boon, M Vikkula The Journal of clinical investigation 124 (3), 898-904, 2014 | 360 | 2014 |
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”) P Brouillard, LM Boon, JB Mulliken, O Enjolras, M Ghassibé, ML Warman, ... The American Journal of Human Genetics 70 (4), 866-874, 2002 | 354 | 2002 |
Venous malformation: update on aetiopathogenesis, diagnosis and management A Dompmartin, M Vikkula, LM Boon Phlebology 25 (5), 224-235, 2010 | 347 | 2010 |
Association of localized intravascular coagulopathy with venous malformations A Dompmartin, A Acher, P Thibon, S Tourbach, C Hermans, V Deneys, ... Archives of dermatology 144 (7), 873-877, 2008 | 342 | 2008 |
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Y Gong, M Vikkula, L Boon, J Liu, P Beighton, R Ramesar, L Peltonen, ... American journal of human genetics 59 (1), 146, 1996 | 322 | 1996 |
RASA1: variable phenotype with capillary and arteriovenous malformations LM Boon, JB Mulliken, M Vikkula Current opinion in genetics & development 15 (3), 265-269, 2005 | 306 | 2005 |