Somatic activating PIK3CA mutations cause venous malformation N Limaye, J Kangas, A Mendola, C Godfraind, MJ Schlögel, R Helaers, ... The American Journal of Human Genetics 97 (6), 914-921, 2015 | 300 | 2015 |
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema A Mendola, MJ Schlögel, A Ghalamkarpour, A Irrthum, HL Nguyen, ... Molecular syndromology 4 (6), 257-266, 2013 | 108 | 2013 |
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations P Brouillard, MJ Schlögel, N Homayun Sepehr, R Helaers, A Queisser, ... Orphanet journal of rare diseases 16 (1), 267, 2021 | 35 | 2021 |
Characterization of ANGPT2 mutations associated with primary lymphedema VM Leppänen, P Brouillard, EA Korhonen, T Sipilä, SK Jha, N Revencu, ... Science translational medicine 12 (560), eaax8013, 2020 | 35 | 2020 |
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome MJ Schlögel, A Mendola, E Fastré, P Vasudevan, K Devriendt, ... Orphanet Journal of Rare Diseases 10, 1-11, 2015 | 22 | 2015 |
Genetic causes of lymphedema MJ Schlögel, P Brouillard, LM Boon, M Vikkula Lymphedema: presentation, diagnosis, and treatment, 19-31, 2015 | 6 | 2015 |
Molecular genetics of lymphatic and complex vascular malformations MJ Schlögel, P Brouillard, LM Boon, M Vikkula Lymphedema: a concise compendium of theory and practice, 753-763, 2018 | 5 | 2018 |
Identification of ANGPT2 mutations as a novel cause of primary lymphedema VM Leppänen, P Brouillard, E Korhonen, T Veli Sipilä, S Kumar Jha, ... ISSVA Workshop, Date: 2020/05/14, Location: virtual, 2020 | | 2020 |
Identification of novel causes of lymphedema and lymphatic malformation, with phenotypic characterisation of patients M Schlögel UCL-Université Catholique de Louvain, 2020 | | 2020 |
Genetic testing in the diagnostic workup of vascular anomalies M Vikkula, N Revencu, A Dompmartin, E Khoury, A Mendola, N Limaye, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 654-655, 2019 | | 2019 |
Lymphatic malformations are caused by somatic mutations in PIK3CA P Brouillard, MJ Schlogel, E Fastre, LM Boon, M Vikkula ANGIOGENESIS 17 (4), 969-969, 2014 | | 2014 |
No locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome MJ Schlögel, A Mendola, E Fastré, K Devriendt, T de Ravel de l'Argentière, ... European Journal of Human Genetics 22, 123-123, 2014 | | 2014 |
Mutations in KIF11 cause Microcephaly-Lymphedema-Chorioretinal dysplasia syndrome (MLCRD) PL Brouillard, M Schlogel, A Mendola, P Ostergaard, A Ghalamkarpour, ... Abstract book, 31, 2012 | | 2012 |