Genetics of lymphatic anomalies

Bằng Brouillard, Pascal, Boon, Laurence, Vikkula, Miikka
Được phát hành 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

Bằng Jha, Sawan Kumar, Rauniyar, Khushbu, Karpanen, Terhi, Leppänen, Veli-Matti, Brouillard, Pascal, Vikkula, Miikka, Alitalo, Kari, Jeltsch, Michael
Xuất bản năm Sci Rep (2017)

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

Bằng Brouillard, Pascal, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Ghassibé, Michella, Warman, Matthew L., Tan, O. T., Olsen, Bjorn R., Vikkula, Miikka
Được phát hành 2002

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

Bằng Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Được phát hành 2012

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis

Bằng 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
Xuất bản năm JAMA Dermatol (2019)

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

Bằng 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
Được phát hành 2013

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

Bằng 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
Xuất bản năm Nat Commun (2020)

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

Bằng 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
Xuất bản năm Trop Med Infect Dis (2020)

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

Bằng 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
Xuất bản năm Orphanet J Rare Dis (2021)

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

Bằng 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.
Xuất bản năm Breast Cancer Res (2020)

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

Bằng 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
Xuất bản năm Orphanet J Rare Dis (2015)

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

Bằng 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
Xuất bản năm Biomolecules (2020)