Genetics of lymphatic anomalies

por Brouillard, Pascal, Boon, Laurence, Vikkula, Miikka
Publicado em 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

por Jha, Sawan Kumar, Rauniyar, Khushbu, Karpanen, Terhi, Leppänen, Veli-Matti, Brouillard, Pascal, Vikkula, Miikka, Alitalo, Kari, Jeltsch, Michael
Publicado no Sci Rep (2017)

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

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

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

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

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis

por 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
Publicado no JAMA Dermatol (2019)

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

por 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
Publicado em 2013

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

por 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
Publicado no Nat Commun (2020)

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

por 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
Publicado no Trop Med Infect Dis (2020)

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

por 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
Publicado no Orphanet J Rare Dis (2021)

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

por 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.
Publicado no Breast Cancer Res (2020)

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

por 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
Publicado no Orphanet J Rare Dis (2015)

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

por 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
Publicado no Biomolecules (2020)