Julie Soblet

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki et al. · Journal of Investigative Dermatology · 2016 · 233 citations

Developmental Anomaly, Syndrome Is, Somatic Tek +5

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

Elisa Boscolo, Nisha Limaye, Lan Huang et al. · Journal of Clinical Investigation · 2015 · 226 citations · Full text

Vms Cause Deformity, Immunology, Pathology +23

Variable Somatic <b><i>TIE2</i></b> Mutations in Half of Sporadic Venous Malformations

Julie Soblet, Nisha Limaye, Mélanie Uebelhoer et al. · Molecular Syndromology · 2013 · 171 citations

Genetics, Genetic Epidemiology, Vascular Malformation +16

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Mélanie Uebelhoer, Marjut Nätynki, J. Kangas et al. · Human Molecular Genetics · 2013 · 116 citations · Full text

Genetics, Vascular Malformation, Pathology +17