[HTML][HTML] Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

…, A Servais, Y Li, L Villoing-Gaudé… - The Journal of …, 2022 - Am Soc Clin Investig
BACKGROUND Proteinuria is considered an unfavorable clinical condition that accelerates
renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria …

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

L Hubert, MC Serio, L Villoing-Gaudé… - Journal of medical …, 2020 - jmg.bmj.com
Background Autistic spectrum disorders (ASDs) with developmental delay and seizures are
a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, …

[PDF][PDF] Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma

…, E Torun, R Goulancourt, M Rodrigues, LV Gaudé… - Cell reports, 2023 - cell.com
Uveal melanoma (UM) is a rare cancer resulting from the transformation of melanocytes in
the uveal tract. Integrative analysis has identified four molecular and clinical subsets of UM. …

[HTML][HTML] Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: Results from a …

…, V Hélin, M Bazire, L Villoing-Gaudé… - Breast Cancer Research …, 2022 - Springer
Purpose A personalized approach to prevention and early detection based on known risk
factors should contribute to early diagnosis and treatment of breast cancer. We initiated a risk …

Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma

…, J Wong, JM Planchon, M Rodrigues, LV Gaudé… - bioRxiv, 2022 - biorxiv.org
Uveal Melanoma (UM) is a rare cancer resulting from the transformation of melanocytes
residing in the uveal tract. Integrative analysis has identified four molecular and clinical subsets …

Abstract PS7-31: Breast cancer risk assessment combined with a polygenic risk score in the general population for personalized screening

…, R Sigal, E Gauthier, V Helin, L Villoing-Gaude… - Cancer Research, 2021 - AACR
Background: Polygenic risk scores (PRS) composed of single nucleotide polymorphisms (SNPs)
known to increase breast cancer risk could improve the performance of existing breast …

Etude de la régulation de l'expression génique par une approche multi-omique dans deux modèles de mélanome uvéal agressif

D Gentien - 2022 - theses.hal.science
Le mélanome uvéal (UM) est un cancer rare résultant de la transformation des mélanocytes
résidant dans le tractus uvéal et est associé à un très mauvais pronostic en situation …

[CITATION][C] and to the more recent members of the lab: Albert Pérez Marti, Mathilda Bedin, Luigi De La Motte and Chiara Garsia: all of you touched my heart and …

L Villoing-Gaudé - All of you created a wonderful atmosphere, making …

[CITATION][C] YY Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function (vol 130, pg 335, 2020)

…, Y Li, L Villoing-Gaude… - JOURNAL OF …, 2022 - … RD, ANN ARBOR, MI 48104 USA

Endotracheal intubation versus supraglottic procedure in paediatric out-of-hospital cardiac arrest: a registry-based study

Q Le Bastard, J Rouzioux, E Montassier, V Baert… - Resuscitation, 2021 - Elsevier
Background Out-of-hospital cardiac arrest (OHCA) in children is associated with a low
survival rate. Conclusions in the literature are conflicting regarding the best way to handle …