Not logged in Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft Ranji, Peyman; Pairet, Eleonore; Helaers, Raphael; Brouillard, Pascal; Bayet, Benedicte; Gerdom, Alexander; Revencu, Nicole; Vikkula, Miikka Share Save
A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms Welsch, Sophie; Harvengt, Antoine; Gallo, Paola; Martin, Manon; Beckers, Dominique; Mouraux, Thierry; Seret, Nicole; Lebrethon, Marie-Christine; Helaers, Raphael; Brouillard, Pascal; Vikkula, Miikka; Lysy, Philippe A. Share Save
Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV) De Bortoli, Martina; Queisser, Angela; Pham, Van Cuong; Dompmartin, Anne; Helaers, Raphal; Boutry, Simon; Claus, Cathy; De Roo, An-Katrien; Hammer, Frank; Brouillard, Pascal; Abdelilah-Seyfried, Salim; Boon, Laurence M.; Vikkula, Miikka Share Save
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema Brouillard, Pascal; Murtomaki, Aino; Leppanen, Veli-Matti; Hyytiainen, Marko; Mestre, Sandrine; Potier, Lucas; Boon, Laurence M.; Revencu, Nicole; Greene, Arin; Anisimov, Andrey; Salo, Miia H.; Hinttala, Reetta; Eklund, Lauri; Quere, Isabelle; Alitalo, Kari; Vikkula, Miikka Share Save
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function Alpaslan, Murat; Fastre, 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 Share Save
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations 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; Vikkula, Miikka; Boon, Laurence M. Share Save
Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects Cloos, Anne-Sophie; Pollet, Helene; Stommen, Amaury; Maja, Mauriane; Lingurski, Maxime; Brichard, Benedicte; Lambert, Catherine; Henriet, Patrick; Pierreux, Christophe; Ruys, Sebastien Pyr dit; Van Der Smissen, Patrick; Vikkula, Miikka; Gatto, Laurent; Martin, Manon; Brouillard, Pascal; Vertommen, Didier; Tyteca, Donatienne Share Save
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants Alpaslan, Murat; Mestre-Godin, Sandrine; Lay, Aurelie; Giacalone, Guido; Helaers, Raphael; Adham, Salma; Kovacsik, Helene; Guillemard, Sophie; Mercier, Erick; Boon, Laurence; Revencu, Nicole; Brouillard, Pascal; Quere, Isabelle; Vikkula, Miikka Share Save
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema Byrne, Alicia B.; Brouillard, Pascal; 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, Raphael; Boon, Laurence M.; Revencu, Nicole; Moore, Lynette; Barnett, Christopher; Haan, Eric; Arts, Peer; Vikkula, Miikka; Scott, Hamish S.; Harvey, Natasha L. Share Save
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis Smeland, Marie F.; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M.; Hvingel, Bodil; Nordbakken, Cecilie, V; Nystad, Mona; Holla, Oystein L.; Vikkula, Miikka Share Save
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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations Brouillard, Pascal; Schlogel, Matthieu J.; Homayun Sepehr, Nassim; Helaers, Raphael; Queisser, Angela; Fastre, 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 Share Save
Characterization of ANGPT2 mutations associated with primary lymphedema Leppanen, Veli-Matti; Brouillard, Pascal; Korhonen, Emilia A.; Sipila, Tuomas; Jha, Sawan Kumar; Revencu, Nicole; Labarque, Veerle; Fastre, Elodie; Schlogel, 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 Share Save
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation Martinez-Corral, Ines; Zhang, Yan; Petkova, Milena; Ortsater, Henrik; Sjoberg, Sofie; Castillo, Sandra D.; Brouillard, Pascal; Libbrecht, Louis; Saur, Dieter; Graupera, Mariona; Alitalo, Kari; Boon, Laurence; Vikkula, Miikka; Makinen, Taija Share Save
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families Van Marcke, Cedric; Helaers, Raphael; De Leener, Anne; Merhi, Ahmad; Schoonjans, Celine A.; Ambroise, Jerome; Galant, Christine; Delree, Paul; Rothe, Francoise; Bar, Isabelle; Khoury, Elsa; Brouillard, Pascal; Canon, Jean-Luc; Vuylsteke, Peter; Machiels, Jean-Pascal; Berliere, Martine; Limaye, Nisha; Vikkula, Miikka; Duhoux, Francois P. Share Save
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis Dachy, Guillaume; de Krijger, Ronald R.; Fraitag, Sylvie; Theate, Ivan; Brichard, Benedicte; Hoffman, Suma B.; Libbrecht, Louis; Arts, Florence A.; Brouillard, Pascal; Vikkula, Miikka; Limaye, Nisha; Demoulin, Jean-Baptiste Share Save
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation Revencu, Nicole; Fastre, Elodie; Ravoet, Marie; Helaers, Raphael; Brouillard, Pascal; Bisdorff-Bresson, Annouk; Chung, Clara W. T.; Gerard, Marion; Dvorakova, Veronika; Irvine, Alan D.; Boon, Laurence M.; Vikkula, Miikka Share Save
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