A5091880870- Vascular Malformations and Hemangiomas
- Vascular Malformations Diagnosis and Treatment
- Vascular Tumors and Angiosarcomas
- Lymphatic System and Diseases
- Vascular Anomalies and Treatments
- Soft tissue tumors and treatment
- Cleft Lip and Palate Research
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Adrenal and Paraganglionic Tumors
- Craniofacial Disorders and Treatments
- Corneal surgery and disorders
- Cell Adhesion Molecules Research
- Tumors and Oncological Cases
- Genomic variations and chromosomal abnormalities
- Vascular anomalies and interventions
- Lymphoma Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Liver Disease Diagnosis and Treatment
- Skin and Cellular Biology Research
- Hormonal Regulation and Hypertension
- Genetic factors in colorectal cancer
- Sympathectomy and Hyperhidrosis Treatments
- Intracranial Aneurysms: Treatment and Complications
de Duve Institute
2016-2025
Cliniques Universitaires Saint-Luc
2015-2025
Walloon Excellence in Lifesciences and Biotechnology
2015-2025
UCLouvain
2015-2024
European Food Information Council
2021
Center for Vascular Biology Research
2019
GTx (United States)
2019
Institute of Human Genetics
2019
Center for Human Genetics
2012-2017
Laboratory of Molecular Genetics
1989-2014
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene six families. Here we report 42 novel and associated phenotype 44 The penetrance de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent hallmark of disorder. Importantly, one-third had fast-flow vascular lesions. Among them, observed severe intracranial AVMs, including vein Galen...
Objective: To determine which venous malformations (VMs) are at risk for coagulopathy.Venous slow-flow vascular present birth, and localized intravascular coagulopathy (LIC) causes pain thrombosis within a lesion severe bleeding during surgical procedures.Design: Prospective convenience sample accrued from 2 multidisciplinary sites in Brussels, Belgium, Caen, France. Participants:The study population comprised 140 patients with clinical data coagulation parameters.Magnetic resonance imaging...
Capillary malformation–arteriovenous malformation (CM–AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs high risk for fast-flow lesions. A limited number of patients have been reported, raising the question phenotypic borders. We identified new with a clinical diagnosis CM–AVM, overlapping phenotypes. was screened in 261 index with: CM–AVM (n = 100), common CM(s) (port-wine stain; n Sturge–Weber syndrome 37), or isolated AVM(s)...
Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations 50% of patients with CM-AVM. Herein studied non-RASA1 to further elucidate the pathogenicity CMs AVMs.We conducted a genome-wide linkage study on CM-AVM family. Whole-exome sequencing was performed 9 unrelated families. We...
Venous malformations (VMs) are composed of ectatic veins with scarce smooth muscle cell coverage. Activating mutations in the endothelial tyrosine kinase receptor TIE2 a common cause these lesions. VMs deformity, pain, and local intravascular coagulopathy, they expand time. Targeted pharmacological therapies not available for this condition. Here, we generated model by injecting HUVECs expressing most frequent VM-causing mutation, TIE2-L914F, into immune-deficient mice. TIE2-L914F-expressing...
Extensive and complex vascular malformations often cause chronic pain severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great need for new therapeutic modalities. Recent preclinical clinical data demonstrated that sirolimus could offset progression of significantly improve quality life patients through inhibition Phosphatidylinositol-3-kinase (PI3K)/AKT/mammalian Target Rapamycin (mTOR) pathway. The purpose this...