Genetics of lymphatic anomalies

door Brouillard, Pascal, Boon, Laurence, Vikkula, Miikka
Gepubliceerd in 2014

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1

door Jha, Sawan Kumar, Rauniyar, Khushbu, Karpanen, Terhi, Leppänen, Veli-Matti, Brouillard, Pascal, Vikkula, Miikka, Alitalo, Kari, Jeltsch, Michael
Gepubliceerd in Sci Rep (2017)

Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)

door Brouillard, Pascal, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Ghassibé, Michella, Warman, Matthew L., Tan, O. T., Olsen, Bjorn R., Vikkula, Miikka
Gepubliceerd in 2002

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin...

door Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Gepubliceerd in 2012

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis

door Dachy, Guillaume, de Krijger, Ronald R., Fraitag, Sylvie, Théate, Ivan, Brichard, Bénédicte, Hoffman, Suma B., Libbrecht, Louis, Arts, Florence A., Brouillard, Pascal, Vikkula, Miikka, Limaye, Nisha, Demoulin, Jean-Baptiste
Gepubliceerd in JAMA Dermatol (2019)

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

door Amyere, Mustapha, Aerts, Virginie, Brouillard, Pascal, McIntyre, Brendan A.S., Duhoux, François P., Wassef, Michel, Enjolras, Odile, Mulliken, John B., Devuyst, Olivier, Antoine-Poirel, Hélène, Boon, Laurence M., Vikkula, Miikka
Gepubliceerd in 2013

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

door Martinez-Corral, Ines, Zhang, Yan, Petkova, Milena, Ortsäter, Henrik, Sjöberg, Sofie, Castillo, Sandra D., Brouillard, Pascal, Libbrecht, Louis, Saur, Dieter, Graupera, Mariona, Alitalo, Kari, Boon, Laurence, Vikkula, Miikka, Mäkinen, Taija
Gepubliceerd in Nat Commun (2020)

First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing

door d’Avila-Levy, Claudia M., Bearzatto, Bertrand, Ambroise, Jérôme, Helaers, Raphaël, Butenko, Anzhelika, Yurchenko, Vyacheslav, A. Morelli, Karina, L. C. Santos, Helena, Brouillard, Pascal, Grellier, Philippe, Gala, Jean-Luc, Vikkula, Miikka
Gepubliceerd in Trop Med Infect Dis (2020)

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

door Brouillard, Pascal, Schlögel, Matthieu J., Homayun Sepehr, Nassim, Helaers, Raphaël, Queisser, Angela, Fastré, Elodie, Boutry, Simon, Schmitz, Sandra, Clapuyt, Philippe, Hammer, Frank, Dompmartin, Anne, Weitz-Tuoretmaa, Annamaria, Laranne, Jussi, Pasquesoone, Louise, Vilain, Catheline, Boon, Laurence M., Vikkula, Miikka
Gepubliceerd in Orphanet J Rare Dis (2021)

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

door Van Marcke, Cédric, Helaers, Raphaël, De Leener, Anne, Merhi, Ahmad, Schoonjans, Céline A., Ambroise, Jérôme, Galant, Christine, Delrée, Paul, Rothé, Françoise, Bar, Isabelle, Khoury, Elsa, Brouillard, Pascal, Canon, Jean-Luc, Vuylsteke, Peter, Machiels, Jean-Pascal, Berlière, Martine, Limaye, Nisha, Vikkula, Miikka, Duhoux, François P.
Gepubliceerd in Breast Cancer Res (2020)

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

door Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, 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, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Gepubliceerd in Orphanet J Rare Dis (2015)

Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis

door Pollet, Hélène, Cloos, Anne-Sophie, Stommen, Amaury, Vanderroost, Juliette, Conrard, Louise, Paquot, Adrien, Ghodsi, Marine, Carquin, Mélanie, Léonard, Catherine, Guthmann, Manuel, Lingurski, Maxime, Vermylen, Christiane, Killian, Theodore, Gatto, Laurent, Rider, Mark, Pyr dit Ruys, Sébastien, Vertommen, Didier, Vikkula, Miikka, Brouillard, Pascal, Van Der Smissen, Patrick, Muccioli, Giulio G., Tyteca, Donatienne
Gepubliceerd in Biomolecules (2020)