Melanie Marion Uebelhoer

  • 591 Citations
20092017

Research output per year

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Research Output

  • 591 Citations
  • 7 Article

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Soblet, J., Kangas, J., Nätynki, M., Mendola, A., Helaers, R., Uebelhoer, M., Kaakinen, M., Cordisco, M., Dompmartin, A., Enjolras, O., Holden, S., Irvine, A. D., Kangesu, L., Léauté-Labrèze, C., Lanoel, A., Lokmic, Z., Maas, S., McAleer, M. A., Penington, A., Rieu, P. & 9 others, Syed, S., van der Vleuten, C., Watson, R., Fishman, S. J., Mulliken, J. B., Eklund, L., Limaye, N., Boon, L. M. & Vikkula, M., Jan 1 2017, In : Journal of Investigative Dermatology. 137, 1, p. 207-216 10 p.

Research output: Contribution to journalArticle

Open Access
  • 61 Scopus citations

    Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

    Boscolo, E., Limaye, N., Huang, L., Kang, K. T., Soblet, J., Uebelhoer, M., Mendola, A., Natynki, M., Seront, E., Dupont, S., Hammer, J., Legrand, C., Brugnara, C., Eklund, L., Vikkula, M., Bischoff, J. & Boon, L. M., Sep 1 2015, In : Journal of Clinical Investigation. 125, 9, p. 3491-3504 14 p.

    Research output: Contribution to journalArticle

    Open Access
  • 80 Scopus citations

    Variable somatic TIE2 mutations in half of sporadic venous malformations

    Soblet, J., Limaye, N., Uebelhoer, M., Boon, L. M. & Vikkula, M., Apr 2013, In : Molecular Syndromology. 4, 4, p. 179-183 5 p.

    Research output: Contribution to journalArticle

  • 65 Scopus citations

    Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

    Uebelhoer, M., Nätynki, M., Kangas, J., Mendola, A., Nguyen, H. L., Soblet, J., Godfraind, C., Boon, L. M., Eklund, L., Limaye, N. & Vikkula, M., Sep 2013, In : Human molecular genetics. 22, 17, p. 3438-3448 11 p., ddt198.

    Research output: Contribution to journalArticle

    Open Access
  • 46 Scopus citations

    Vascular anomalies: From genetics toward models for therapeutic trials

    Uebelhoer, M., Boon, L. M. & Vikkula, M., Aug 2012, In : Cold Spring Harbor Perspectives in Medicine. 2, 8, a009688.

    Research output: Contribution to journalArticle

    Open Access
  • 32 Scopus citations