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Angiopoietin-TIE2 feedforward circuit promotes PIK3CA-driven venous malformations 血管生成素-TIE2正反馈回路促进PIK3CA驱动的静脉畸形 Kraft, Marle; Schoofs, Hans; Petkova, Milena; Andrade, Jorge; Grosso, Ana Rita; Benedito, Rui; De Roo, An-Katrien; Boon, Laurence M.; Vikkula, Miikka; Kapp, Friedrich G.; Hagerling, Rene; Potente, Michael; Makinen, Taija 分享 收藏
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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 分享 收藏
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 分享 收藏
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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 分享 收藏
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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. 分享 收藏
A case report of sirolimus use in early fetal management of lymphatic malformation Seront, Emmanuel; Biard, Jean Marc; Van Damme, An; Revencu, Nicole; Lengele, Benoit; Schmitz, Sandra; de Toeuf, Caroline; Clapuyt, Philippe; Veyckemans, Francis; Pregardien, Caroline; Vikkula, Miikka; Bernard, Pierre; Boon, Laurence M. 分享 收藏
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 分享 收藏
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Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations Boon, Laurence M.; Dekeuleneer, Valerie; Coulie, Julien; Marot, Liliane; Bataille, Anne-Christine; Hammer, Frank; Clapuyt, Philippe; Jeanjean, Anne; Dompmartin, Anne; Vikkula, Miikka 分享 收藏
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. 分享 收藏
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis 双等位基因ANGPT2功能丧失导致严重的早发性非免疫性胎儿水肿 Smeland, Marie F.; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M.; Hvingel, Bodil; Nordbakken, Cecilie, V; Nystad, Mona; Holla, Oystein L.; Vikkula, Miikka 分享 收藏
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