Kolexia
Dupuis Sophie
Génétique médicale
Hôpital Femme Mère Enfant
Bron, France
125 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Télangiectasie hémorragique héréditaire Télangiectasie Malformations artérioveineuses Épistaxis Syndrome de Marfan Maladies rares Hémorragie Maladies vasculaires Hypertension artérielle

Industries

Shire
2 collaboration(s)
Dernière en 2017
Alexion
1 collaboration(s)
Dernière en 2017
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Dernières activités

Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances.
The Journal of clinical investigation   15 février 2024
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
European journal of medical genetics   12 février 2024
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors.
Angiogenesis   31 janvier 2024
National French retrospective cohort of 22 individuals with kyphoscoliotic Ehlers-Danlos syndrome: emphasis on vascular involvement
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
ClinGen HHT Variant Curation Expert Panel’s modified variant interpretation and classification guidelines
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
BEST: Subsequent Bevacizumab Treatment in Patients With HHT After the End of BABH Interventional Study. A Descriptive Study.
Essai Clinique (Hospices Civils de Lyon)   08 septembre 2023
Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial.
Journal of internal medicine   23 août 2023
ROSE: Evaluation of the Value of Measuring Pulmonary Arterial Pressures During Exercise in Hereditary Haemorrhagic Telangiectasia Patients With Hepatic Involvement - Pilot Study
Essai Clinique (Hospices Civils de Lyon)   17 août 2023
EPICURE: Efficacy of Nintedanib Per os as a Treatment for Epistaxis in HHT Disease. A National, Randomized, Multicentre Phase II Study
Essai Clinique (Hospices Civils de Lyon)   03 août 2023
SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc): National Cohort on the Vascular Ehlers-Danlos Syndrome (SEDv)
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   26 juillet 2023