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Displaying 22 results.
    • Journal article
    Association of localized intravascular coagulopathy with venous malformations
    Dompmartin, Anne[UCL] Acher, Aurélie Thibon, Pascal Tourbach, Sébastien[UCL] Hermans, Cédric[UCL] Deneys, Véronique[UCL] Pocock, Ben[UCL] Lequerrec, Agnès Labbé, Daniel Barrellier, Marie-Thérèse Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] (2008) Archives of Dermatology — Vol. 144, no. 7, p. 873-877 (2008)
    • Journal article
    Oral Contraceptive and D-Dimer Level—Reply
    Dompmartin, Anne Boon, Laurence M.[UCL] Thibon, Pascal Vikkula, Miikka[UCL] (2009) Archives of Dermatology — Vol. 145, no. 2, p. 210-211 (2009)
    • Journal article
    Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
    Brouillard, Pascal[UCL] Ghassibé, Michella[UCL] Penington, A Boon, Laurence M.[UCL] Dompmartin, Anne[UCL] Temple, I K Cordisco, M Adams, D. Piette, F Harper, J I Syed, S Boralevi, F Taïeb, A Danda, S Baselga, E Enjolras, O Mulliken, J B Vikkula, Miikka[UCL] (2005) Journal of medical genetics — Vol. 42, no. 2, p. e13 (2005)
    • 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)
    • Journal article
    Elevated D-dimer Level in the Differential Diagnosis of Venous Malformations
    Dompmartin, Anne Hermans, Cédric[UCL] Clapuyt, Philippe[UCL] Boon, Laurence M.[UCL] Ballieux, Fanny[UCL] Thibon, Pascal Lequerrec, Agnes Barrellier, Marie-Therese Hammer, Frank[UCL] Labbe, Daniel Vikkula, Miikka[UCL] (2009) Archives of Dermatology — Vol. 145, no. 11, p. 1239-44 (2009)
    • Journal article
    Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
    Brouillard, Pascal[UCL] Schlögel, Matthieu[UCL] Homayun Sepehr, Nassim[UCL] Helaers, Raphaël[UCL] Queisser, Angela[UCL] Fastré, Elodie[UCL] Boutry, Simon[UCL] Schmitz, Sandra[UCL] Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dompmartin, Anne[UCL] Weitz-Tuoretmaa, Annamaria Laranne, Jussi Pasquesoone, Louise Vilain, Catheline Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2021) Orphanet journal of rare diseases — Vol. 16, no. 1, p. 267 [1-12] (2021)
    • Journal article
    Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
    Eerola, Iiro[UCL] Boon, Laurence M.[UCL] Mulliken, John B Burrows, Patricia E Dompmartin, Anne Watanabe, Shoji Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] (2003) American journal of human genetics — Vol. 73, no. 6, p. 1240-1249 (2003)
    • Journal article
    Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations
    Boon, Laurence M.[UCL] Dekeuleneer, Valérie Coulie, Julien[UCL] Marot, Liliane Bataille, Anne-Christine Hammer, Frank Clapuyt, Philippe Jeanjean, Anne Dompmartin, Anne Vikkula, Miikka[UCL] (2022) Nature Cardiovascular Research — Vol. 1, no.6, p. 562-567 (2022)
    • Journal article
    The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.
    Diociaiuti, Andrea Baselga, Eulalia Boon, Laurence M.[UCL] Dompmartin, Anne Dvorakova, Veronika El Hachem, May Gasparella, Paolo Haxhija, Emir Ghaffarpour, Nader Kyrklund, Kristiina Irvine, Alan D Kapp, Friedrich G Rößler, Jochen Salminen, Päivi van den Bosch, Caroline van der Vleuten, Carine Kool, Leo Schultze Vikkula, Miikka[UCL] (2022) European journal of medical genetics — Vol. 65, no. 6, p. 104517 [1-9] (2022)
    • Journal article
    Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV)
    De Bortoli, Martina[UCL] Queisser, Angela[UCL] Pham, Van Cuong Dompmartin, Anne Helaers, Raphaël[UCL] Boutry, Simon[UCL] Claus, Cathy[UCL] De Roo, An-Katrien[UCL] Hammer, Frank[UCL] Brouillard, Pascal[UCL] Abdelilah-Seyfried, Salim Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2024) Journal of Investigative Dermatology — (2024)
    • Journal article
    The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.
    Ghaffarpour, Nader Baselga, Eulalia Boon, Laurence M.[UCL] Diociaiuti, Andrea Dompmartin, Anne Dvorakova, Veronika El Hachem, May Gasparella, Paolo Haxhija, Emir Kyrklund, Kristiina Irvine, Alan D Kapp, Friedrich G Rößler, Jochen Salminen, Päivi van den Bosch, Caroline van der Vleuten, Carine Kool, Leo Schultze Vikkula, Miikka[UCL] (2022) European journal of medical genetics — Vol. 65, no.12, p. 104637 [1-9] (2022)
    • Journal article
    Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.
    Amyere, Mustapha[UCL] Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Pairet, Eleonore[UCL] Baselga, Eulalia Cordisco, Maria Chung, Wendy Dubois, Josée Lacour, Jean-Philippe Martorell, Loreto Mazereeuw-Hautier, Juliette Pyeritz, Reed E. Amor, David J. Bisdorff, Anouck Blei, Francine Bombei, Hannah Dompmartin, Anne Brooks, David J. González-Enseñat, Maria Antonia Frieden, Ilona Gerard, Marion Kvarnung, Malin Kwan Hanson-Kahn, Andrea Hudgins, Louanne Leaute-Labreze, Christine McCuaig, Catherine Metry, Denise Parent, Philippe Paul, Carle Petit, Florence Phan, Alice Quere, Isabelle Salhi, Aicha Turner, Anne Vabres, Pierre Vicente, Asuncion Wargon, Orli Watanabe, Shoji Weibel, Lisa Wilson, Ashley Willing, Marcia Mulliken, John B. Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2017) Circulation — Vol. 136, no. 11, p. 1037-1048 (2017)
    • Journal article
    Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations
    Seront, Emmanuel Van Damme, An[UCL] Legrand, Catherine[UCL] Bisdorff-Bresson, Annouk Orcel, Philippe Funck-Brentano, Thomas Sevestre, Marie-Antoinette Dompmartin, Anne Quere, Isabelle Brouillard, Pascal[UCL] Revencu, Nicole[UCL] De Bortoli, Martina[UCL] Hammer, Frank[UCL] Clapuyt, Philippe[UCL] Dumitriu, Dana Ioana[UCL] Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] (2023) JCI Insight — Vol. 8, no.21 (2023)
    • Journal article
    GNA11-mutated Sturge–Weber syndrome has distinct neurological and dermatological features
    Dompmartin, Anne van der Vleuten, Carine J. M. Dekeuleneer, Valérie[UCL] Duprez, Thierry[UCL] Revencu, Nicole[UCL] Désir, Julie te Loo, D. Maroeska W. M. Flucke, Uta Eijkelenboom, Astrid Schultze Kool, Leo Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] (2022) European journal of neurology — Vol. 29, no. 10, p. 3061-3070 (2022)
    • Journal article
    The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations
    Dompmartin, Anne Baselga, Eulalia Boon, Laurence M.[UCL] Diociaiuti, Andrea Dvorakova, Veronika El Hachem, May Gasparella, Paolo Haxhija, Emir Ghaffarpour, Nader Kyrklund, Kristiina Irvine, Alan D. Kapp, Friedrich G. Rößler, Jochen Salminen, Päivi van den Bosch, Caroline van der Vleuten, Carine Schultze Kool, Leo Vikkula, Miikka[UCL] (2023) Journal of Vascular Anomalies — Vol. 4, no.2, p. e064 (2023)
    • Journal article
    Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations.
    Dompmartin, Anne Blaizot, Xavier Théron, Jacques Hammer, Frank[UCL] Chene, Yannick Labbé, Daniel Barrellier, Marie-Thérèse Gaillard, Cathy Leroyer, Robert Chedru, Valérie Ollivier, Catherine Vikkula, Miikka Boon, Laurence M.[UCL] (2011) European Radiology — Vol. 21, no. 12, p. 2647-2656 (2011)
    • Journal article
    Safety and immunogenicity of MAGE-A3 cancer immunotherapeutic with dacarbazine in patients with MAGE-A3-positive metastatic cutaneous melanoma: an open phase I/II study with a first assessment of a predictive gene signature.
    Grob, Jean-Jacques Mortier, Laurent D'Hondt, Lionel[UCL] Grange, Florent Baurain, Jean-François[UCL] Dréno, Brigitte Lebbe, Céleste Robert, Caroline Dompmartin, Anne Neyns, Bart Gillet, Marc Louahed, Jamila Jarnjak, Silvija Lehmann, Frédéric F (2017) ESMO open — Vol. 2, no. 5, p. e000203 [1-8] (2017)
    • 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)
    • BookChapter
    Disorders affecting cutaneous vasculature
    Dompmartin, Anne Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2016) Rook's Textbook of Dermatology, 9th edition — [ISBN : 9781118441190]
    • Journal article
    Common somatic alterations identified in Maffucci syndrome by molecular karyotyping
    Amyere, Mustapha[UCL] Dompmartin, Anne Wouters, Vinciane[UCL] Enjolras, Odile Kaitila, I Docquier, Pierre-Louis[UCL] Godfraind, Catherine[UCL] Mulliken, John B. Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2014) Mol Syndromol — Vol. 5, no.6, p. 259-67 (Aug 26, 2014)
    • 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
    RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mendola, Antonella[UCL] Cordisco, Maria Rosa Dubois, Josée Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Amor, David J Irvine, Alan D Baselga, Eulalia Dompmartin, Anne Syed, Samira Martin-Santiago, Ana Ades, Lesley Collins, Felicity Smith, Janine Sandaradura, Sarah Barrio, Victoria R Burrows, Patricia E Blei, Francine Cozzolino, Mariarosaria Brunetti-Pierri, Nicola Vicente, Asuncion Abramowicz, Marc Désir, Julie Vilain, Catheline Chung, Wendy K Wilson, Ashley Gardiner, Carol A Dwight, Yim Lord, David J E Fishman, Leona Cytrynbaum, Cheryl Chamlin, Sarah Ghali, Fred Gilaberte, Yolanda Joss, Shelagh Boente, Maria Del C Léauté-Labrèze, Christine Delrue, Marie-Ange Bayliss, Susan Martorell, Loreto González-Enseñat, Maria-Antonia Mazereeuw-Hautier, Juliette O'Donnell, Brid Bessis, Didier Pyeritz, Reed E Salhi, Aicha Tan, Oon T Wargon, Orli Mulliken, John B Vikkula, Miikka[UCL] (2013) Human Mutation — Vol. 34, no.12, p. 1632-1641 (2013)