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Year Number of Results
2002 1
2004 1
2007 1
2010 1
2011 1
2012 1
2013 2
2014 1
2015 1
2017 3
2018 1
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2020 7
2021 6
2022 1
2023 4
2024 2

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33 results

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Page 1
Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV).
De Bortoli M, Queisser A, Pham VC, Dompmartin A, Helaers R, Boutry S, Claus C, De Roo AK, Hammer F, Brouillard P, Abdelilah-Seyfried S, Boon LM, Vikkula M. De Bortoli M, et al. J Invest Dermatol. 2024 Feb 29:S0022-202X(24)00164-7. doi: 10.1016/j.jid.2024.01.033. Online ahead of print. J Invest Dermatol. 2024. PMID: 38431221 Free article.
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations.
Seront E, Van Damme A, Legrand C, Bisdorff-Bresson A, Orcel P, Funck-Brentano T, Sevestre MA, Dompmartin A, Quere I, Brouillard P, Revencu N, De Bortoli M, Hammer F, Clapuyt P, Dumitriu D, Vikkula M, Boon LM. Seront E, et al. JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095. JCI Insight. 2023. PMID: 37937645 Free PMC article. Clinical Trial.
Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects.
Cloos AS, Pollet H, Stommen A, Maja M, Lingurski M, Brichard B, Lambert C, Henriet P, Pierreux C, Pyr Dit Ruys S, Van Der Smissen P, Vikkula M, Gatto L, Martin M, Brouillard P, Vertommen D, Tyteca D. Cloos AS, et al. Blood Adv. 2023 Sep 12;7(17):4705-4720. doi: 10.1182/bloodadvances.2022009114. Blood Adv. 2023. PMID: 36753606 Free PMC article.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
Primary lymphoedema.
Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M. Brouillard P, et al. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038/s41572-021-00309-7. Nat Rev Dis Primers. 2021. PMID: 34675250 Review.
33 results