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Displaying 6 results.
    • Journal article
    Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
    Coulie, Richard[UCL] Niyazov, Dmitriy M Gambello, Michael J Fastré, Elodie[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2021) American journal of medical genetics. Part A — Vol. 185, no. 7, p. 2153-2159 (2021)
    • Journal article
    Characterization of ANGPT2 mutations associated with primary lymphedema
    Leppänen, Veli-Matti Brouillard, Pascal[UCL] Korhonen, Emilia A Sipilä, Tuomas Jha, Sawan Kumar Revencu, Nicole[UCL] Labarque, Veerle Fastré, Elodie[UCL] Schlögel, Matthieu[UCL] Ravoet, Marie[UCL] Singer, Amihood Luzzatto, Claudia Angelone, Donatella Crichiutti, Giovanni D'Elia, Angela Kuurne, Jaakko Elamaa, Harri Koh, Gou Young Saharinen, Pipsa Vikkula, Miikka[UCL] Alitalo, Kari (2020) Science translational medicine — Vol. 12, no. 560, p. eaax8013 [1-11] (2020)
    • 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
    Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
    Lantoine, Joséphine Brysse, Anne Dideberg, Vinciane Claes, Kathleen Symoens, Sofie Coucke, Wim Benoit, Valérie Rombout, Sonia De Rycke, Martine Seneca, Sara Van Laer, Lut Wuyts, Wim Corveleyn, Anniek Van Den Bogaert, Kris Rydlewski, Catherine Wilkin, Françoise Ravoet, Marie[UCL] Fastré, Elodie[UCL] Capron, Arnaud Vandevelde, Nathalie Monique (2021) JMIR medical informatics — Vol. 9, no.7, p. e27980 [1-10] (2021)
    • Journal article
    Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function
    Alpaslan, Murat[UCL] Fastré, Elodie Mestre, Sandrine van Haeringen, Arie Repetto, Gabriela M Keymolen, Kathelijn Boon, Laurence M.[UCL] Belva, Florence Giacalone, Guido[UCL] Revencu, Nicole[UCL] Sznajer, Yves[UCL] Riches, Katie Keeley, Vaughan Mansour, Sahar Gordon, Kristiana Martin-Almedina, Silvia Dobbins, Sara Ostergaard, Pia Quere, Isabelle[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2024) Human Molecular Genetics — Vol. 33, no. 14, p. 1250-1261 (2024)
    • Journal article
    Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
    Mendola, Antonella[UCL] Schlögel, Matthieu J[UCL] Ghalamkarpour, Arash[UCL] Irrthum, A Nguyen, H L Fastré, Elodie[UCL] Bygum, A van der Vleuten, C Fagerberg, C Baselga, E Quere, I Mulliken, J B Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2013) Molecular syndromology — Vol. 4, no.6, p. 257-266 (2013)