User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 8 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
    Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
    Byrne, Alicia B. Brouillard, Pascal[UCL] Sutton, Drew L. Kazenwadel, Jan Montazaribarforoushi, Saba Secker, Genevieve A. Oszmiana, Anna Babic, Milena Betterman, Kelly L. Brautigan, Peter J. White, Melissa Piltz, Sandra G. Thomas, Paul Q. Hahn, Christopher N. Rath, Matthias Felbor, Ute Korenke, G. Christoph Smith, Christopher L. Wood, Kathleen H. Sheppard, Sarah E. Adams, Denise M. Kariminejad, Ariana Helaers, Raphaël[UCL] Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Moore, Lynette Barnett, Christopher Haan, Eric Arts, Peer Vikkula, Miikka[UCL] Scott, Hamish S. Harvey, Natasha L. (2022) Science translational medicine — Vol. 14, no. 634, p. eabm486 [1-14] (2022)
    • Journal article
    Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants
    De Bortoli, Martina[UCL] Ivars, Marta Revencu, Nicole[UCL] Nassogne, Marie-Cécile[UCL] Lavarino, Cinzia Paco, Sonia Lammens, Martin Renders, Anne[UCL] Dumitriu, Dana Ioana[UCL] Helaers, Raphaël[UCL] Boon, Laurence M.[UCL] Baselga, Eulalia Vikkula, Miikka[UCL] (2024) American Journal of Medical Genetics Part A — (2024)
    • 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
    Ureteropelvic junction obstruction with primary lymphoedema associated with<i>CELSR1</i>variants
    Alpaslan, Murat[UCL] Mestré-Godin, Sandrine Lay, Aurélie Giacalone, Guido[UCL] Helaers, Raphaël[UCL] Adham, Salma[UCL] Kovacsik, Hélène Guillemard, Sophie Mercier, Erick Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Brouillard, Pascal[UCL] Quere, Isabelle Vikkula, Miikka[UCL] (2023) Journal of Medical Genetics — Vol. x, no.x, p. jmg-2023-109171 (2023)
    • Journal article
    Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.
    Demeer, Bénédicte Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Gbaguidi, Cica Dakpe, Stéphanie François, Geneviève[UCL] Devauchelle, Bernard Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2019) Genes — Vol. 10, no. 10, p. 833 [1-9] (2019)
    • 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
    Unmasking Familial CPX by WES and Identification of Novel Clinical Signs
    Demeer, Bénédicte[UCL] Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Devauchelle, Bernard François, Geneviève[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2018) American journal of medical genetics. Part A — Vol. 176, no. 12, p. 2661-2667 (2018)