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Angiopoietin-TIE2 feedforward circuit promotes PIK3CA-driven venous malformations 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 Share Save
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
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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA (vol 19, 213, 2024) Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gasdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schoenewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; 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
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gasdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schoenewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka Share Save
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Spatially resolved analysis of tumor microenvironment in invasive lobular carcinoma Serra, Matteo; Rediti, Mattia; Collet, Laetitia; Lifrange, Frederic; Venet, David; Occelli, Nicola; Wang, Xiaoxiao; Vincent, Delphine; Rouas, Ghizlane; Craciun, Ligia; Larsimont, Denis; Buisseret, Laurence; Vikkula, Miikka; Duhoux, Francois; Rothe, Francoise; Sotiriou, Christos 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
Unravelling tumor heterogeneity in patients with HER2-low hormone receptor-positive breast cancer using spatial transcriptomics Fimereli, Danai; Serra, Matteo; Rediti, Mattia; Lifrange, Frederic; Occelli, Nicola; Collet, Laetitia; Vincent, Delphine; Rouas, Ghizlane; Craciun, Ligia; Larsimont, Denis; Venet, David; Vikkula, Miikka; Duhoux, Francois P.; Rothe, Francoise; Sotiriou, Christos Share Save
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