Ségolène Bernheim

ORCID: 0000-0003-3506-6184
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About
Contact & Profiles
Research Areas
  • Congenital heart defects research
  • Cardiovascular Function and Risk Factors
  • Congenital Heart Disease Studies
  • Developmental Biology and Gene Regulation
  • Central Venous Catheters and Hemodialysis
  • Pancreatic function and diabetes
  • Metabolism and Genetic Disorders
  • Genomic variations and chromosomal abnormalities
  • Neonatal Health and Biochemistry
  • Cardiac Valve Diseases and Treatments
  • Urinary Tract Infections Management
  • Pediatric Hepatobiliary Diseases and Treatments
  • RNA modifications and cancer
  • Axon Guidance and Neuronal Signaling
  • Congenital Anomalies and Fetal Surgery
  • Cardiac Structural Anomalies and Repair
  • Urinary Bladder and Prostate Research

Université Paris Cité
2019-2025

Hôpital Necker-Enfants Malades
2025

Assistance Publique – Hôpitaux de Paris
2025

Institut Pasteur
2019-2023

Morphogenèse du coeur
2019-2023

Inserm
2019-2023

Institut des Maladies Génétiques Imagine
2019-2020

Délégation Paris 5
2019

Hôpital Robert-Debré
2017

Central venous catheterization is crucial for the perioperative and postoperative management of neonatal cardiac surgery patients. The procedure can be challenging due to small size vessels, it carries a high risk morbidity mortality. most common sites catheter insertion are jugular or femoral veins; however, access typically avoided in patients with univentricular heart disease. frequent complications associated central catheters thromboembolic events infections. Here, we present case...

10.1186/s12887-025-05589-6 article EN cc-by-nc-nd BMC Pediatrics 2025-03-24

Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis invasive (amniocentesis) and limited to suspect cases. No screening test has been described, particular no correlations between prenatal sonography PA have documented so far. We report case boy fetal bilateral nephromegaly hyperechogenic kidneys, along neonatal acute kidney injury; etiology could be found months At 3 life, he presented...

10.1186/s12882-017-0535-4 article EN cc-by BMC Nephrology 2017-03-30

Summary Despite their burden and impact, most congenital defects remain poorly understood by lack of knowledge the embryological mechanisms. Here, we identify Greb1l mutants as first mouse model criss-cross heart. Based on 3D quantifications shape changes, demonstrate that torsion atrioventricular canal occurs together with supero-inferior ventricles at E10.5, after heart looping. Mutants phenocopy specific features partial deficiency in retinoic acid signalling, suggesting GREB1L is a novel...

10.1101/2023.05.11.540418 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2023-05-11

10.1016/s1166-4568(23)46748-4 article FR EMC - Cardiologie 2024-02-01

Summary The secreted factor Nodal has been shown to be a major left determinant. Although it is associated with severe congenital heart defects, its role in morphogenesis remained poorly understood. Here, we report that transiently active precursors of the mouse tube poles, before morphological changes looping. In conditional mutants, show not required initiate asymmetric morphogenesis. We provide evidence heart-specific random generator asymmetry independent Nodal. Using 3D quantifications...

10.1101/854463 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2019-11-25

Abstract OBJECTIVES The purpose of this study is to describe the long-term results ‘réparation à l’étage ventriculaire’ (REV) technique for double-outlet right ventricle and transposition great arteries (TGA) with pulmonary stenosis (PS). METHODS Between 1980 2021, 157 patients underwent a REV procedure (median age weight: 20.8 months 7.7 kg). most frequent anatomical presentation was association between TGA, ventricular septal defect PS (n = 116, 73.9%). RESULTS Sixty-seven (42.7%) Rashkind...

10.1093/ejcts/ezad409 article EN European Journal of Cardio-Thoracic Surgery 2023-12-01
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