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Displaying 5 results.
    • Journal article
    RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.
    Revencu, Nicole[UCL] Fastre, Elodie[UCL] Ravoet, Marie[UCL] Helaers, Raphaël[UCL] Brouillard, Pascal[UCL] Bisdorff-Bresson, Annouk Chung, Clara W T Gerard, Marion Dvorakova, Veronika Irvine, Alan D Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2020) Journal of Medical Genetics — Vol. 57, no. 1, p. 48-52 (2020)
    • Journal article
    Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
    Futema, Marta Ramaswami, Uma Tichy, Lukas Bogsrud, Martin P Holven, Kirsten B Roeters van Lennep, Jeanine Wiegman, Albert Descamps, Olivier S De Leener, Anne[UCL] Fastre, Elodie[UCL] Vrablik, Michal Freiberger, Tomas Esterbauer, Harald Dieplinger, Hans Greber-Platzer, Susanne Medeiros, Ana M Bourbon, Mafalda Mollaki, Vasiliki Drogari, Euridiki Humphries, Steve E (2021) Atherosclerosis — Vol. 319, p. 108-117 (2021)
    • Dissertation
    Targeted Next Generation Sequencing unravels loss-of-function mutations in two lymphangiogenic factors in primary lymphedema patients
    Fastre, Elodie[UCL] (2018)
    • Journal article
    Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.
    Fastre, Elodie[UCL] Lanteigne, Lydia-Elizabeth[UCL] Helaers, Raphaël[UCL] Giacalone, Guido Revencu, Nicole[UCL] Dionyssiou, Dimitris Demiri, Efterpi Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2018) Clinical Genetics — Vol. 94, no. 1, p. 179-181 (2018)
    • Journal article
    No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
    Schlögel, Matthieu[UCL] Mendola, Antonella[UCL] Fastre, Elodie[UCL] Vasudevan, Pradeep Devriendt, Koen de Ravel, Thomy Jl Van Esch, Hilde Casteels, Ingele Arroyo Carrera, Ignacio Cristofoli, Francesca Fieggen, Karen Jones, Katheryn Lipson, Mark Balikova, Irina Singer, Ami Soller, Maria Mercedes Villanueva, María Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2015) Orphanet Journal of Rare Diseases — Vol. 10, no. 1, p. 52 (2015)