Pascal Brouillard

Welsch, Sophie ; Harvengta, Antoine ; Gallo, Paola ; Martin, Manon ; Beckers, Dominique ; MOURAUX, Thierry ; Seret, Nicole ; Lebrethon, Marie-Christine ; Helaers, Raphaël ; Brouillard, Pascal ; Vikkula, Miikka ; Lysy, Philippe. A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms. In: Diabetes & Metabolism Journal, Vol. 48, no. 5, p. 949-959 (2024). doi:10.4093/dmj.2023.0166.

http://hdl.handle.net/2078.1/286534

Brouillard, Pascal ; Murtomäki, Aino ; Leppänen, Veli-Matti ; Hyytiäinen, Marko ; Mestre, Sandrine ; Potier, Lucas ; Boon, Laurence M. ; Revencu, Nicole ; Greene, Arin K. ; Anisimov, Andrey ; Salo, Miia H. ; Hinttala, Reetta ; Eklund, Lauri ; Quere, Isabelle ; Alitalo, Kari ; Vikkula, Miikka. Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema. In: Journal of Clinical Investigation, Vol. 134, no. 14, p. e173586 (2024). doi:10.1172/jci173586.

http://hdl.handle.net/2078.1/288627

Alpaslan, Murat ; Fastré, Elodie ; Mestre, Sandrine ; van Haeringen, Arie ; Repetto, Gabriela M ; Keymolen, Kathelijn ; Boon, Laurence M. ; Belva, Florence ; Giacalone, Guido ; Revencu, Nicole ; Sznajer, Yves ; Riches, Katie ; Keeley, Vaughan ; Mansour, Sahar ; Gordon, Kristiana ; Martin-Almedina, Silvia ; Dobbins, Sara ; Ostergaard, Pia ; Quere, Isabelle ; Brouillard, Pascal ; Vikkula, Miikka. Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. In: Human Molecular Genetics, Vol. 33, no. 14, p. 1250-1261 (2024). doi:10.1093/hmg/ddae060.

http://hdl.handle.net/2078.1/288623

De Bortoli, Martina ; Queisser, Angela ; Pham, Van Cuong ; Dompmartin, Anne ; Helaers, Raphaël ; Boutry, Simon ; Claus, Cathy ; De Roo, An-Katrien ; Hammer, Frank ; Brouillard, Pascal ; Abdelilah-Seyfried, Salim ; Boon, Laurence M. ; Vikkula, Miikka. Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV). In: Journal of Investigative Dermatology, Vol. 144, no. 9, p. 2066-2077 (2024). doi:10.1016/j.jid.2024.01.033 (Accepté/Sous presse).

http://hdl.handle.net/2078.1/285740

Smeland, Marie F. ; Brouillard, Pascal (co-first author) ; Prescot, Trine ; Boon, Laurence M. ; Bodil, Hvingel ; Nordbakken, Cecilie V. ; Nystad, Mona ; Holla, Øystein L. ; Vikkula, Miikka. Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis. In: Journal of medical genetics, Vol. 60, no. 1, p. 57-64 (2023). doi:10.1136/jmedgenet-2021-108179.

http://hdl.handle.net/2078.1/254561

Seront, Emmanuel ; Van Damme, An ; Legrand, Catherine ; Bisdorff-Bresson, Annouk ; Orcel, Philippe ; Funck-Brentano, Thomas ; Sevestre, Marie-Antoinette ; Dompmartin, Anne ; Quere, Isabelle ; Brouillard, Pascal ; Revencu, Nicole ; De Bortoli, Martina ; Hammer, Frank ; Clapuyt, Philippe ; Dumitriu, Dana Ioana ; Vikkula, Miikka ; Boon, Laurence M.. Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations. In: JCI Insight, Vol. 8, no.21 (2023). doi:10.1172/jci.insight.173095.

http://hdl.handle.net/2078.1/280000

Cloos, Anne-Sophie ; Pollet, Hélène ; Stommen, Amaury ; Maja, Mauriane ; Lingurski, Maxime ; Brichard, Bénédicte ; Lambert, Catherine ; Henriet, Patrick ; Pierreux, Christophe ; Pyr dit Ruys, Sébastien ; Van Der Smissen, Patrick ; Vikkula, Miikka ; Gatto, Laurent ; Martin, Manon ; Brouillard, Pascal ; Vertommen, Didier ; Tyteca, Donatienne. Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects.. In: Blood advances, Vol. 7, no.17, p. 4705-4720 (2023). doi:10.1182/bloodadvances.2022009114.

http://hdl.handle.net/2078.1/278245

Alpaslan, Murat ; Mestré-Godin, Sandrine ; Lay, Aurélie ; Giacalone, Guido ; Helaers, Raphaël ; Adham, Salma ; Kovacsik, Hélène ; Guillemard, Sophie ; Mercier, Erick ; Boon, Laurence M. ; Revencu, Nicole ; Brouillard, Pascal ; Quere, Isabelle ; Vikkula, Miikka. Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants. In: Journal of Medical Genetics, Vol. x, no.x, p. jmg-2023-109171 (2023). doi:10.1136/jmg-2023-109171.

http://hdl.handle.net/2078.1/275442

Cordisco, Maria Rosa ; El-Feghaly, Jinia ; Prezzano, James C. ; Lanöel, Agustina ; Torres, Natalia ; Persico, Susana ; Requejo, Flavio ; Sierre, Sergio ; Fiandrino, María José ; Luna, Laura ; Maccario, Maria Fernanda ; Brouillard, Pascal ; Vikkula, Miikka. Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis. In: Journal of Vascular Anomalies, Vol. 3, no. 4, p. e053 (2022). doi:10.1097/jova.0000000000000053.

http://hdl.handle.net/2078.1/273701

Byrne, Alicia B. ; Brouillard, Pascal (co-first author) ; Sutton, Drew L. (co-first author) ; Kazenwadel, Jan (co-first author) ; 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 ; Boon, Laurence M. ; Revencu, Nicole ; Moore, Lynette ; Barnett, Christopher ; Haan, Eric ; Arts, Peer ; Vikkula, Miikka ; Scott, Hamish S. ; Harvey, Natasha L.. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. In: Science translational medicine, Vol. 14, no. 634, p. eabm486 [1-14] (2022). doi:10.1126/scitranslmed.abm4869.

http://hdl.handle.net/2078.1/260107

Greene, Arin ; Brouillard, Pascal ; Sudduth, Christopher ; Smits, Patrick ; Konczyk, Dennis ; Vikkula, Miikka. EPHB4 Mutation Causes Adult and Adolescent-Onset Primary Lymphedema. In: American Journal of Medical Genetics. Part A, Vol. 185, no. 12, p. 3810-3813 (2021). doi:10.1002/ajmg.a.62416.

http://hdl.handle.net/2078.1/248477

Witte, M H ; Erickson, R P ; Luy, L ; Brouillard, Pascal ; Vikkula, M. Human chromosome map of lymphedema-lymphangiogenesis genes: Template for current and future discovery.. In: Lymphology, Vol. 54, no.4, p. 167-169 (2021). doi:10.2458/lymph.4837.

http://hdl.handle.net/2078.1/273700

Coulie, Richard ; Niyazov, Dmitriy M ; Gambello, Michael J ; Fastré, Elodie ; Brouillard, Pascal ; Vikkula, Miikka. Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.. In: American journal of medical genetics. Part A, Vol. 185, no. 7, p. 2153-2159 (2021). doi:10.1002/ajmg.a.62205.

http://hdl.handle.net/2078.1/248085

Homayun Sepehr, Nassim ; McCarter, Anna L. ; Helaers, Raphaël ; Galant, Christine ; Boon, Laurence M. ; Brouillard, Pascal ; Vikkula, Miikka ; Dellinger, Michael T.. KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. In: Journal of Clinical Investigation Insight, Vol. 6, no. 15, p. e149831 (2021). doi:10.1172/jci.insight.149831.

http://hdl.handle.net/2078.1/248426

Brouillard, Pascal ; Schlögel, Matthieu (co-first author) ; 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. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.. In: Orphanet journal of rare diseases, Vol. 16, no. 1, p. 267 [1-12] (2021). doi:10.1186/s13023-021-01898-y.

http://hdl.handle.net/2078.1/248468

Brouillard, Pascal ; Marlys H. Witte ; Robert P. Erickson ; Robert J. Damstra ; Corinne Becker ; Isabelle Quéré ; Vikkula, Miikka. Primary lymphoedema. In: Nature Reviews Disease Primers, Vol. 7, no. 1, p. 77 (2021). doi:10.1038/s41572-021-00309-7.

http://hdl.handle.net/2078.1/252125

Pollet, Hélène ; Cloos, Anne-Sophie (co-first author) ; Stommen, Amaury ; Vanderroost, Juliette ; Conrard, Louise ; Paquot, Adrien ; Ghodsi, Marine ; Carquin, Mélanie ; Léonard, Anne-Catherine ; Guthmann, Manuel ; Lingurski, Maxime ; Vermylen, Christiane ; Killian, Theodore ; Gatto, Laurent ; Rider, Mark H. ; Pyr dit Ruys, Sébastien ; Vertommen, Didier ; Vikkula, Miikka ; Brouillard, Pascal ; Van Der Smissen, Patrick ; Muccioli, Giulio ; Tyteca, Donatienne. Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis. In: Biomolecules, Vol. 10, no. 8, p. 1120 [1-25] (2020). doi:10.3390/biom10081120.

http://hdl.handle.net/2078.1/232537

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 M. ; Vikkula, Miikka ; Mäkinen, Taija. Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation.. In: Nature communications, Vol. 11, no. 1, p. 2869 [1-14] (2020). doi:10.1038/s41467-020-16496-y.

http://hdl.handle.net/2078.1/230279

Leppänen, Veli-Matti ; Brouillard, Pascal (co-first author) ; Korhonen, Emilia A ; Sipilä, Tuomas ; Jha, Sawan Kumar ; Revencu, Nicole ; Labarque, Veerle ; Fastré, Elodie ; Schlögel, Matthieu ; Ravoet, Marie ; Singer, Amihood ; Luzzatto, Claudia ; Angelone, Donatella ; Crichiutti, Giovanni ; D'Elia, Angela ; Kuurne, Jaakko ; Elamaa, Harri ; Koh, Gou Young ; Saharinen, Pipsa ; Vikkula, Miikka ; Alitalo, Kari. Characterization of ANGPT2 mutations associated with primary lymphedema. In: Science translational medicine, Vol. 12, no. 560, p. eaax8013 [1-11] (2020). doi:10.1126/scitranslmed.aax8013.

http://hdl.handle.net/2078.1/243041

d'Avila-Levy, Claudia M ; Bearzatto, Bertrand ; Ambroise, Jérôme ; Helaers, Raphaël ; Butenko, Anzhelika ; Yurchenko, Vyacheslav ; Morelli, Karina A ; Santos, Helena L C ; Brouillard, Pascal ; Grellier, Philippe ; Gala, Jean-Luc ; Vikkula, Miikka. First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing. In: Tropical medicine and infectious disease, Vol. 5, no. 1, p. 25 (2020). doi:10.3390/tropicalmed5010025.

http://hdl.handle.net/2078.1/230062

Revencu, Nicole ; Fastre, Elodie ; Ravoet, Marie ; Helaers, Raphaël ; Brouillard, Pascal ; Bisdorff-Bresson, Annouk ; Chung, Clara W T ; Gerard, Marion ; Dvorakova, Veronika ; Irvine, Alan D ; Boon, Laurence M. ; Vikkula, Miikka. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.. In: Journal of Medical Genetics, Vol. 57, no. 1, p. 48-52 (2020). doi:10.1136/jmedgenet-2019-106024.

http://hdl.handle.net/2078.1/225488

Hansmann, Patrick ; Brückner, Anne ; Kiontke, Stephan ; Berkenfeld, Bianca ; Seebohm, Guiscard ; Brouillard, Pascal ; Vikkula, Miikka ; Jansen, Floor E ; Nellist, Mark ; Oeckinghaus, Andrea ; Kümmel, Daniel. Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.. In: Structure (London, England : 1993), Vol. 28, no. 8, p. 933-42 (2020). doi:10.1016/j.str.2020.05.008.

http://hdl.handle.net/2078.1/230369

van Marcke, Cédric ; Helaers, Raphaël ; De Leener, Anne ; Merhi, Ahmad ; Schoonjans, Céline ; Ambroise, Jérôme ; Galant, Christine ; Delrée, Paul ; Rothé, Françoise ; Bar, Isabelle ; Khoury, Elsa ; Brouillard, Pascal ; Canon, Jean-Luc ; Vuylsteke, Peter ; Machiels, Jean-Pascal ; Berliere, Martine ; Limaye, Nisha ; Vikkula, Miikka ; Duhoux, François. Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.. In: Breast cancer research, Vol. 22, no. 1, p. 36 (2020). doi:10.1186/s13058-020-01273-y.

http://hdl.handle.net/2078.1/230060

Dachy, Guillaume ; de Krijger, Ronald R ; Fraitag, Sylvie ; Théate, Ivan ; Brichard, Bénédicte ; Hoffman, Suma B ; Libbrecht, Louis ; Arts, Florence ; Brouillard, Pascal ; Vikkula, Miikka ; Limaye, Nisha ; Demoulin, Jean-Baptiste. Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.. In: JAMA dermatology, Vol. 155, no. 8, p. 946-950 (2019). doi:10.1001/jamadermatol.2019.0114.

http://hdl.handle.net/2078.1/216167

Janssens, Pauline ; Dekeuleneer, Valérie ; Van Damme, An ; Brouillard, Pascal ; Revencu, Nicole ; Clapuyt, Philippe ; Ferreira, Ingrid ; Ballieux, Fanny ; Vikkula, Miikka ; Marot, Liliane ; Baeck, Marie ; Boon, Laurence M. Angiosarcoma arising from congenital primary lymphedema.. In: Pediatric dermatology, Vol. 35, no. 6, p. e382-e388 (2018). doi:10.1111/pde.13664.

http://hdl.handle.net/2078.1/218063

Fastre, Elodie ; Lanteigne, Lydia-Elizabeth ; Helaers, Raphaël ; Giacalone, Guido ; Revencu, Nicole ; Dionyssiou, Dimitris ; Demiri, Efterpi ; Brouillard, Pascal ; Vikkula, Miikka. Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.. In: Clinical Genetics, Vol. 94, no. 1, p. 179-181 (2018). doi:10.1111/cge.13204.

http://hdl.handle.net/2078/196888

Jha, Kumar Sawan ; Rauniyar, Khushbu ; Karpanen, Terhi ; Leppanen, Veli-Matti ; Brouillard, Pascal ; Vikkula, Miikka ; Alitalo, Kari ; Jeltsch, Michael. Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1. In: Scientific reports, Vol. 7, no. 1, p. 4916 [1-13] (2017). doi:10.1038/s41598-017-04982-1.

http://hdl.handle.net/2078.1/181336

Brambila-Tapia, Aniel Jessica Leticia ; García-Ortiz, José Elías ; Brouillard, Pascal ; Nguyen, Ha-Long ; Vikkula, Miikka ; Ríos-González, Blanca Estela ; Sandoval-Muñiz, Roberto de Jesús ; Sandoval-Talamantes, Ana Karen ; Bobadilla-Morales, Lucina ; Corona-Rivera, Jorge Román ; Arnaud-Lopez, Lisette. GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. In: Hematology, Vol. 22, no. 8, p. 467-71 (2017). doi:10.1080/10245332.2017.1294551.

http://hdl.handle.net/2078.1/181986

Brouillard, Pascal ; Dupont, Laura ; Helaers, Raphaël ; Coulie, Richard ; Tiller, George E. ; Peeden, Joseph ; Colige, Alain ; Vikkula, Miikka. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. In: Human Molecular Genetics, Vol. 26, no. 21, p. 4095-4104 (2017). doi:10.1093/hmg/ddx297.

http://hdl.handle.net/2078.1/183906

Boudon, E. ; Levy, Y. ; Abossolo, T. ; Cartault, François ; Brouillard, Pascal ; Vikkula, Miikka ; Kieffer-Traversier, M. ; Ramful, D. ; Alessandri, J. L.. Antenatal presentation of hereditary lymphedema type I.. In: European Journal of Medical Genetics, Vol. 58, no.6-7, p. 329-331 (2015). doi:10.1016/j.ejmg.2015.03.006.

http://hdl.handle.net/2078.1/160924

Moalem, S. ; Brouillard, Pascal (co-first author) ; Kuypers, D. ; Legius, E. ; Harvey, E. ; Taylor, G. ; Francois, M. ; Vikkula, Miikka ; Chitayat, D.. Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. In: Clinical Genetics, Vol. 87, no. 4, p. 378-82 (2015). doi:10.1111/cge.12388.

http://hdl.handle.net/2078.1/146322

Schlögel, Matthieu ; Mendola, Antonella ; Fastre, 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. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.. In: Orphanet Journal of Rare Diseases, Vol. 10, no. 1, p. 52 (2015). doi:10.1186/s13023-015-0271-4.

http://hdl.handle.net/2078.1/160923

Brouillard, Pascal ; Boon, Laurence M. ; Vikkula, Miikka. Genetics of lymphatic anomalies. In: Journal of Clinical Investigation, Vol. 124, no. 3, p. 898-904 (2014). doi:10.1172/JCI71614.

http://hdl.handle.net/2078.1/140982

Brouillard, Pascal ; Boon, Laurence M. ; Revencu, Nicole ; Berg, J ; Dompmartin, A ; Dubois, J ; Garzon, M ; Holden, S ; Kangesu, L ; Labrèze, C ; Lynch, S A ; McKeown, C ; Meskauskas, R ; Quere, I ; Syed, S ; Vabres, P ; Wassef, M ; Mulliken, J B ; Vikkula, Miikka ; . Genotypes and Phenotypes of 162 Families with a Glomulin Mutation.. In: Molecular syndromology, Vol. 4, no.4, p. 157-164 (2013). doi:10.1159/000348675.

http://hdl.handle.net/2078.1/130993

Mendola, Antonella ; Schlögel, Matthieu J ; Ghalamkarpour, Arash ; Irrthum, A ; Nguyen, H L ; Fastré, Elodie ; Bygum, A ; van der Vleuten, C ; Fagerberg, C ; Baselga, E ; Quere, I ; Mulliken, J B ; Boon, Laurence M. ; Brouillard, Pascal ; Vikkula, Miikka. Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.. In: Molecular syndromology, Vol. 4, no.6, p. 257-266 (2013). doi:10.1159/000354097.

http://hdl.handle.net/2078.1/137934

Ballieux, Fanny ; Modarressi, Ali ; Hammer, Frank ; Clapuyt, Philippe ; Docquier, Pierre-Louis ; Godfraind, Catherine ; Feyaerts, Axel ; Brouillard, Pascal ; Vikkula, Miikka ; Boon, Laurence M.. Reconstructive surgery in the management of a patient with CLOVES syndrome.. In: Journal of Plastic, Reconstructive & Aesthetic Surgery (Print), Vol. 66, no. 12, p. 1813-1815 (15 Jul. 2013). doi:10.1016/j.bjps.2013.06.045.

http://hdl.handle.net/2078.1/134565

Amyere, Mustapha ; Aerts, Virginie ; Brouillard, Pascal (co-first author) ; McIntyre, Brendan A S ; Duhoux, François ; Wassef, Michel ; Enjolras, Odile ; Mulliken, John B ; Devuyst, Olivier ; Poirel, Hélène ; Boon, Laurence M. ; Vikkula, Miikka. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.. In: American journal of human genetics, Vol. 92, no. 2, p. 188-96 (2013).

http://hdl.handle.net/2078.1/124098

Butler, Matthew G ; Dagenais, Susan L ; Garcia-Perez, José L ; Brouillard, Pascal ; Vikkula, Miikka ; Strouse, Peter ; Innis, Jeffrey W ; Glover, Thomas W. Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.. In: American Journal of Medical Genetics. Part A, Vol. 158A, no.4, p. 839-49 (2012). doi:10.1002/ajmg.a.35229.

http://hdl.handle.net/2078.1/120168

Goujon, Elisa ; Cordoro, Kelly M ; Barat, Muriel ; Rousseau, Thierry ; Brouillard, Pascal ; Vikkula, Miikka ; Frieden, Ilona J ; Vabres, Pierre. Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.. In: Pediatric dermatology, Vol. 28, no. 5, p. 528-31 (2011). doi:10.1111/j.1525-1470.2010.01216.x.

http://hdl.handle.net/2078.1/107869

Aerts, Virginie ; Brouillard, Pascal ; Boon, Laurence M. ; Vikkula, Miikka. GLMN (glomulin). In: Atlas of Genetics and Cytogenetics in Oncology and Haematology, Vol. 12, no. 1, p. 41-43 (2008). doi:10.4267/2042/38473.

http://hdl.handle.net/2078.1/137939

Brouillard, Pascal ; Vikkula, Miikka. Genetic causes of vascular malformations.. In: Human molecular genetics, Vol. 16 Spec No. 2, p. R140-9 (2007). doi:10.1093/hmg/ddm211.

http://hdl.handle.net/2078.1/11049

Brouillard, Pascal ; Ghassibé, Michella ; Penington, A ; Boon, Laurence M. ; Dompmartin, Anne ; Temple, I K ; Cordisco, M ; Adams, D. ; Piette, F ; Harper, J I ; Syed, S ; Boralevi, F ; Taïeb, A ; Danda, S ; Baselga, E ; Enjolras, O ; Mulliken, J B ; Vikkula, Miikka. Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.. In: Journal of medical genetics, Vol. 42, no. 2, p. e13 (2005). doi:10.1136/jmg.2004.024174.

http://hdl.handle.net/2078.1/21940

McIntyre, Brendan ; Brouillard, Pascal ; Aerts, Virginie ; Gutierrez-Roelens, Ilse ; Vikkula, Miikka. Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.. In: Gene expression patterns : GEP, Vol. 4, no. 3, p. 351-8 (2004). doi:10.1016/j.modgep.2003.09.007.

http://hdl.handle.net/2078.1/21952

Brouillard, Pascal ; Vikkula, Miikka. Vascular malformations: localized defects in vascular morphogenesis.. In: Clinical genetics, Vol. 63, no. 5, p. 340-351 (2003). doi:10.1034/j.1399-0004.2003.00092.x.

http://hdl.handle.net/2078.1/21960

Brouillard, Pascal ; Boon, Laurence M. ; Mulliken, John B. ; Enjolras, Odile ; Ghassibé, Michella ; Warman, Matthew L. ; Tan, O. T. ; Olsen, Bjorn R. ; Vikkula, Miikka. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). In: American Journal of Human Genetics, Vol. 70, no. 4, p. 866-874 (2002). doi:10.1086/339492.

http://hdl.handle.net/2078.1/21943

Irrthum, Alexandre ; Brouillard, Pascal ; Enjolras, Odile ; Gibbs, Neil F. ; Eichenfield, Lawrence F. ; Olsen, Bjorn R. ; Mulliken, John B. ; Boon, Laurence M. ; Vikkula, Miikka. Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.. In: European Journal of Human Genetics, Vol. 9, no. 1, p. 34-38 (2001). doi:10.1038/sj.ejhg.5200576.

http://hdl.handle.net/2078.1/21945

Brouillard, Pascal ; Olsen, B R ; Vikkula, Miikka. High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.. In: Genomics, Vol. 67, no. 1, p. 96-101 (2000). doi:10.1006/geno.2000.6232.

http://hdl.handle.net/2078.1/8610

Boon, Laurence M. ; Brouillard, Pascal ; Irrthum, A ; Karttunen, L ; Warman, M L ; Rudolph, R ; Mulliken, J B ; Olsen, B R ; Vikkula, Miikka. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.. In: American journal of human genetics, Vol. 65, no. 1, p. 125-33 (1999). doi:10.1086/302450.

http://hdl.handle.net/2078.1/21947

Brouillard, Pascal ; Limaye, Nisha ; Boon, Laurence M. ; Vikkula, Miikka. Disorders of the venous system. In: Reed Pyeritz Bruce Korf Wayne Grody, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Academic Press, 2020, p. 251-60. 9780128125373. doi:10.1016/B978-0-12-812532-8.00009-4.

http://hdl.handle.net/2078.1/230376

Schlögel, Matthieu ; Brouillard, Pascal ; Boon, Laurence M. ; Vikkula, Miikka. Molecular genetics of lymphatic and complex vascular malformations. In: Byung-Boong Lee and Stanley G. Rockson, Lymphedema: A Concise Compendium of Theory and Practice, Springer, 2018. 978-0-85729-567-5.

http://hdl.handle.net/2078.1/183916

Brouillard, Pascal ; Boon, Laurence M. ; Vikkula, Miikka. Glomulin and glomuvenous malformation. In: Robert P. Erickson & Anthony J. Wynshaw-Boris, Epstein's Inborn errors of development. The Molecular Basis of Clinical Disorders of Morphogenesis., Oxford University Press: New York, NY, USA, 2016, 1423-8. 0199934525.

http://hdl.handle.net/2078.1/161581

Brouillard, Pascal ; Devriendt, Koen ; Vikkula, Miikka. SOX18 and the hypotrichosis-lymphedema-telangiectasia syndrome. In: Robert P. Erickson & Anthony J. Wynshaw-Boris, Epstein's Inborn errors of development. The Molecular Basis of Clinical Disorders of Morphogenesis., 3rd edition, Oxford University Press: New York, NY, USA, 2016, 867-70. 0199934525.

http://hdl.handle.net/2078.1/161582

Schlögel, Matthieu ; Brouillard, Pascal ; Boon, Laurence M. ; Vikkula, Miikka. Genetic causes of lymphedema. In: Greene, Arin K, Slavin, Sumner A., Brorson, Håkan, Lymphedema: Presentation, Diagnosis and Treatment, Springer International Publishing: (Switzerland) Cham, 2015, p. 19-31. 978-3-319-14493-1. doi:10.1007/978-3-319-14493-1_3.

http://hdl.handle.net/2078.1/161599

Brouillard, Pascal ; Limaye, Nisha ; Boon, Laurence M. ; Vikkula, Miikka. Disorders of the venous system. In: Rimoin DL, Pyeritz RE, Korf BR, Principles and Practice in Medical Genetics, 6th, Elsevier Ltd., 2013, p. Chapter 56, 1-9. 978-0-12-383834-6. doi:10.1016/B978-0-12-383834-6.00179-8.

http://hdl.handle.net/2078.1/130856

Brouillard, Pascal ; Enjolras, Odile ; Boon, Laurence M. ; Vikkula, Miikka. GLMN and glomuvenous malformation. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, Inborn errors of development, 2nd (Oxford Monographs on Medical Genetics), Oxford University Press: New York, NY, USA, 2008, p. 1561-1565. 978-0-19-530691-0.

http://hdl.handle.net/2078.1/120374

Brouillard, Pascal. Pathogenic EPHB4 variants of lymphatic-related non-immune hydrops fetalis and CM-AVM2 have discernible functional effects. VAC 2023 - International Conference on Vascular Anomalies (Brussels, Belgium, du 31/01/2023 au 03/02/2023).

http://hdl.handle.net/2078.1/273706

Brouillard, Pascal. MDFIC mutations cause autosomal recessive Complicated Lymphatic Anomaly. European Society of Human Genetics Hybrid Conference 2022 (Vienna (Austria) & Online, du 11/06/2022 au 14/06/2022).

http://hdl.handle.net/2078.1/273705

Brouillard, Pascal. KRAS-driven model of Gorham-Stout disease effectively treated with trametinib to Vascular malformations. EMBO Workshop: Vascular malformations: From fundamental biology to therapeutic opportunities (Barcelona (Spain) & Online, du 06/10/2021 au 08/10/2021).

http://hdl.handle.net/2078.1/273703

Brouillard, Pascal. Non-Hotspot PIK3CA Mutations are More Frequent in CLOVES than in Common or Combined Lymphatic Malformations. EMBO Workshop: Vascular malformations: From fundamental biology to therapeutic opportunities (Barcelona (Spain) & Online, du 06/10/2021 au 08/10/2021).

http://hdl.handle.net/2078.1/273702

Brouillard, Pascal. Non-Hotspot PIK3CA Mutations are More Frequent in CLOVES than in Common or Combined Lymphatic Malformations. The International Scientific Meeting for PIK3CA Related Conditions (Online Virtual Meeting, du 28/10/2021 au 29/10/2021).

http://hdl.handle.net/2078.1/273704

Uebelhoer, Mélanie ; Brouillard, Pascal ; Achouri, Younes ; Vikkula, Miikka. Towards a Venous Malformation Mouse Model. 11th Annual Meeting of the Belgian Society of Human Gentics (Louvain-la-Neuve, Belgium, 04/03/2011).

http://hdl.handle.net/2078.1/138032

Amyere, Mustapha ; Aerts, Virginie ; Duhoux, François ; Brouillard, Pascal ; Wassef, Michel ; Enjolras, Odile ; Mulliken, John B ; Poirel, Hélène ; Devuyst, Olivier ; Boon, Laurence M. ; Vikkula, Miikka. Acquired Uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformation. 10th Annual Meeting of the Belgian Society of Human Genetics (Ghent, 26/02/2010).

http://hdl.handle.net/2078.1/69467

Vikkula, Miikka ; Aerts, Virginie ; Duhoux, François ; Brouillard, Pascal ; Wassef, Michel ; Enjolras, Odile ; Mulliken, John B ; Poirel, Hélène ; Devuyst, Olivier ; Boon, Laurence M. ; Amyere, Mustapha. Acquired uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformations. European Human Genetics Conference (Goeteborg, Suède, du 12/06/2010 au 15/06/2010). In: European Journal of Human Genetics, Vol. 18, no. S1, p. 41 (2010).

http://hdl.handle.net/2078.1/69469

Uebelhoer, Mélanie ; Limaye, Nisha ; Brouillard, Pascal ; Achouri, Younes ; Vikkula, Miikka. Towards a Venous Malformation Mouse Model. 16th International Vascular Biology Meeting (Los Angeles, USA, du 20/06/2010 au 24/06/2010).

http://hdl.handle.net/2078.1/138031

Uebelhoer, Mélanie ; Limaye, Nisha ; Brouillard, Pascal ; Vikkula, Miikka. Towards a Venous Malformation Mouse Model. 10th Annual Meeting of the Belgian Society of Human Genetics (Ghent, Belgium, 26/02/2010).

http://hdl.handle.net/2078.1/138027

Uebelhoer, Mélanie ; Limaye, Nisha ; Brouillard, Pascal ; Vikkula, Miikka. Towards a Venous Malformation Mouse Model. 18th Workshop on Vascular Anomalies (Brussels, Belgium, du 21/04/2010 au 24/04/2010).

http://hdl.handle.net/2078.1/138029

Brouillard, Pascal ; Boon, Laurence M. ; McIntyre, B. A. S. ; Vassilev, V. S. ; Mulliken, J. B. ; Vikkula, Miikka. Lack of glomulin, a specific marker of vascular smooth muscle cell differentiation, causes glomuvenous malformations. 14th International Vascular Biology Meeting (Noordwijkerhout (Netherlands), Jun 06-10, 2006). In: Vascular Pharmacology, Vol. 45, no. 3, p. 183-184 (2006). doi:10.1016/j.vph.2006.08.029.

http://hdl.handle.net/2078.1/59751

Brouillard, Pascal ; Ghassibé, Michella ; Boon, Laurence M. ; Penington, A ; Enjolras, O ; Mulliken, JB ; Vikkula, Miikka. Identification of novel glomulin gene mutations responsible for inherited glomuvenous malformations (glomangiomas).. 52nd Annual Meeting of the American-Society-of-Human-Genetics (BALTIMORE (Maryland), Oct 15-19, 2002). In: American Journal of Human Genetics, Vol. 71, no. 4, p. 521-521 (2002).

http://hdl.handle.net/2078.1/61595

Brouillard, Pascal ; Boon, Laurence M. ; Ghassibé, Michella ; Enjolras, O ; Mulliken, J ; Vikkula, Miikka. Inherited glomuvenous malformations are caused by the combination of a germline and a somatic "second hit" mutation in the glomulin gene. European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics (STRASBOURG (France), May 25-28, 2002). In: European Journal of Human Genetics, Vol. 10, p. 68-68 (2002).

http://hdl.handle.net/2078.1/61366

Brouillard, Pascal ; Boon, Laurence M. ; Enjolras, O ; Ghassibé, Michella ; Mulliken, JB ; Vikkula, Miikka. Somatic second hit-hypothesis is true for glomuvenous malformations.. In: American Journal of Human Genetics, Vol. 69, no. 4, p. 604-604 (2001).

http://hdl.handle.net/2078.1/61875

Vikkula, Miikka ; Brouillard, Pascal ; Mulliken, JB ; Enjolras, O ; Warman, ML ; Tan, OT ; Olsen, BR ; Boon, Laurence M.. Truncating mutations in the glomulin gene cause glomuvenous malformations.. In: American Journal of Human Genetics, Vol. 69, no. 4, p. 183-183 (2001).

http://hdl.handle.net/2078.1/61869

Brouillard, Pascal. Positional cloning of the Glomuvenous malformation ("Glomangioma") gene, prom. : Vikkula, Miikka, 2003.

https://hdl.handle.net/2078.1/247860