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Displaying 8 results.
    • Journal article
    Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
    Wouters, Vinciane Limaye, Nisha[UCL] Uebelhoer, Mélanie[UCL] Irrthum, Alexandre Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Baselga, Eulalia Berg, Jonathan Dompmartin, Anne Ivarsson, Sten A Kangesu, Loshan Lacassie, Yves Murphy, Jill Teebi, Ahmad S Penington, Anthony Rieu, Paul Vikkula, Miikka[UCL] (2010) European journal of human genetics : EJHG — Vol. 18, no. 4, p. 414-20 (2010)
    • BookChapter
    Vascular anomalies: from genetics toward models for therapeutic trials
    Uebelhoer, Mélanie[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2012) Angiogenesis: from development to pathology — [ISBN : 978-1-936113-43-9]
    • BookChapter
    TIE2 (TEK) and venous malformation
    Limaye, Nisha[UCL] Uebelhoer, Mélanie[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2016) Epstein's Inborn errors of development. Molecular basis of clinical disorders of morphogenesis. — [ISBN : 0199934525]
    • Journal article
    Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
    Soblet, Julie[UCL] Kangas, Jaakko Nätynki, Marjut Mendola, Antonella[UCL] Helaers, Raphaël[UCL] Uebelhoer, Mélanie Kaakinen, Mika Cordisco, Maria Dompmartin, Anne Enjolras, Odile Holden, Simon Irvine, Alan D Kangesu, Loshan Léauté-Labrèze, Christine Lanoel, Agustina Lokmic, Zerina Maas, Saskia McAleer, Maeve A Penington, Anthony Rieu, Paul Syed, Samira van der Vleuten, Carine Watson, Rosemarie Fishman, Steven J Mulliken, John B Eklund, Lauri Limaye, Nisha Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2017) The Journal of Investigative Dermatology — Vol. 137, no. 1, p. 207-216 (2017)
    • Journal article
    Somatic mutations in the angiopoietin-receptor TIE2 can cause both solitary and multiple sporadic venous malformations
    Limaye, Nisha[UCL] Wouters, Vinciane[UCL] Uebelhoer, Mélanie[UCL] Tuominen, Marjut Wirkkala, Riikka Mulliken, John B. Eklund, Lauri Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) Nature Genetics — Vol. 41, no. 1, p. 118-124 (2009)
    • Journal article
    Variable somatic TIE2 mutations in half of sporadic venous malformations
    Soblet, Julie[UCL] Limaye, Nisha[UCL] Uebelhoer, Mélanie[UCL] Dompmartin, Anne Vanwijck, Romain[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2013) Mol Syndromol — Vol. 4, no.4, p. 179-183 (2013)
    • Journal article
    Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.
    Uebelhoer, Mélanie[UCL] Nätynki, Marjut Kangas, Jaakko Mendola, Antonella[UCL] Nguyen, Ha-Long Soblet, Julie Godfraind, Catherine Boon, Laurence M.[UCL] Eklund, Lauri Limaye, Nisha Vikkula, Miikka (2013) Human molecular genetics — Vol. 22, no. 17, p. 3438-3448 (2013)
    • Journal article
    Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects
    Boscolo, Elisa Limaye, Nisha[UCL] Huang, Lan Kang, Kyu-Tae Soblet, Julie[UCL] Uebelhoer, Mélanie[UCL] Mendola, Antonella[UCL] Natynki, Marjut Seront, Emmanuel[UCL] Dupont, Sophie[UCL] Hammer, Jennifer[UCL] Legrand, Catherine[UCL] Brugnara, Carlo Eklund, Lauri Vikkula, Miikka[UCL] Bischoff, Joyce Boon, Laurence M.[UCL] (2015) Journal of Clinical Investigation — Vol. 125, no. 9, p. 3491-3504 (2015)