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T.0026.14

Funded outputs count: 22
Funder award ID: T.0026.14
OpenAlex ID: G4950632177
AXL promotes lymphangiogenesis by amplifying VEGF-C-mediated AKT pathway
2025 · Sébastien Pirson, Marine Gautier-Isola, et al. · Cellular and Molecular Life Sciences · 6
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema
2024 · Pascal Brouillard, Aino Murtomäki, et al. · Journal of Clinical Investigation · 22
Rare variant association on unrelated individuals in case–control studies using aggregation tests: existing methods and current limitations
2023 · Simon Boutry, Raphaël Helaers, et al. · Briefings in Bioinformatics · 7
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Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data
2023 · Simon Boutry, Raphaël Helaers, et al. · PLoS Computational Biology · 3
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Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants
2023 · Murat Alpaslan, Sandrine Mestré-Godin, et al. · Journal of Medical Genetics · 6
Clinical phenotype of adolescent and adult patients with extracranial vascular malformation
2023 · Aleksandra Tuleja, Sarah Bernhard, et al. · Journal of Vascular Surgery Venous and Lymphatic Disorders · 11
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GNA11 ‐mutated Sturge–Weber syndrome has distinct neurological and dermatological features
2022 · Anne Dompmartin, Carine J. M. van der Vleuten, et al. · European Journal of Neurology · 47
Molecular pathways and possible therapies for head and neck vascular anomalies
2022 · Julien Coulie, Laurence Boon, et al. · Journal of Oral Pathology and Medicine · 12
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
2022 · Berivan Tas, Daniele Starnoni, et al. · Frontiers in Pediatrics · 9
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
2021 · Marie F. Smeland, Pascal Brouillard, et al. · Journal of Medical Genetics · 9
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KRAS-driven model of Gorham-Stout disease effectively treated with trametinib
2021 · Nassim Homayun-Sepehr, Anna L. McCarter, et al. · JCI Insight · 81
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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
2021 · Pascal Brouillard, Matthieu J. Schlögel, et al. · Orphanet Journal of Rare Diseases · 62
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Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum
2021 · Richard Coulie, Dmitriy M. Niyazov, et al. · American Journal of Medical Genetics Part A · 10
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation
2020 · Ines Martinez-Corral, Yan Zhang, et al. · Nature Communications · 114
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Theranostic Advances in Vascular Malformations
2020 · Valérie Dekeuleneer, Emmanuel Seront, et al. · Journal of Investigative Dermatology · 69
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
2019 · Nicole Revencu, Elodie Fastre, et al. · Journal of Medical Genetics · 77
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
2019 · Katherine A. Rauen, Abeer Alsaegh, et al. · American Journal of Medical Genetics Part A · 13
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
2018 · Jennifer Hammer, Emmanuel Seront, et al. · Orphanet Journal of Rare Diseases · 240
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Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1
2017 · Sawan Kumar Jha, Khushbu Rauniyar, et al. · Scientific Reports · 88
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Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
2016 · Julie Soblet, Jaakko Kangas, et al. · Journal of Investigative Dermatology · 247
STK39 and WNK1 Are Potential Hypertension Susceptibility Genes in the BELHYPGEN Cohort
2016 · Alexandre Persu, Lucie Evenepoel, et al. · Medicine · 17
Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects
2015 · Elisa Boscolo, Nisha Limaye, et al. · Journal of Clinical Investigation · 240
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