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Displaying 11 results.
    • Journal article
    Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.
    Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Vikkula, Miikka[UCL] (2004) Archives of dermatology — Vol. 140, no. 8, p. 971-6 (2004)
    • Journal article
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Cordisco, Maria Rosa Burrows, Patricia E Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dubois, Josée Baselga, Eulalia Brancati, Francesco Carder, Robin Quintal, José Miguel Ceballos Dallapiccola, Bruno Fischer, Gayle Frieden, Ilona J Garzon, Maria Harper, John Johnson-Patel, Jennifer Labrèze, Christine Martorell, Loreto Paltiel, Harriet J Pohl, Annette Prendiville, Julie Quere, Isabelle Siegel, Dawn H Valente, Enza Maria Van Hagen, Annet Van Hest, Liselot Vaux, Keith K Vicente, Asuncion Weibel, Lisa Chitayat, David Vikkula, Miikka[UCL] (2008) Human Mutation — Vol. 29, no. 7, p. 959-965 (2008)
    • Journal article
    Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.
    Eerola, Iiro[UCL] Boon, Laurence M.[UCL] Watanabe, Shoji Grynberg, Henri Mulliken, John B Vikkula, Miikka[UCL] (2002) European Journal of Human Genetics — Vol. 10, no. 6, p. 375-380 (2002)
    • 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
    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
    RASA1: variable phenotype with capillary and arteriovenous malformations.
    Boon, Laurence M.[UCL] Mulliken, John B Vikkula, Miikka[UCL] (2005) Current opinion in genetics & development — Vol. 15, no. 3, p. 265-9 (2005)
    • Speech
    Acquired Uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformation
    Amyere, Mustapha[UCL] Aerts, Virginie[UCL] Duhoux, François[UCL] Brouillard, Pascal[UCL] Wassef, Michel Enjolras, Odile Mulliken, John B Poirel, Hélène[UCL] Devuyst, Olivier[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2010) 10th Annual Meeting of the Belgian Society of Human Genetics — Ghent
    • Speech
    Acquired uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformations
    Vikkula, Miikka[UCL] Aerts, Virginie[UCL] Duhoux, François[UCL] Brouillard, Pascal[UCL] Wassef, Michel Enjolras, Odile Mulliken, John B Poirel, Hélène[UCL] Devuyst, Olivier[UCL] Boon, Laurence M.[UCL] Amyere, Mustapha[UCL] (2010) European Human Genetics Conference — Goeteborg, Suède
    • Journal article
    Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
    Amyere, Mustapha Aerts, Virginie Brouillard, Pascal McIntyre, Brendan A S Duhoux, François[UCL] Wassef, Michel Enjolras, Odile Mulliken, John B Devuyst, Olivier[UCL] Poirel, Hélène[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka (2013) American journal of human genetics — Vol. 92, no. 2, p. 188-96 (2013)
    • 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
    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)