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Davalos, V.  et al. 2023

An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma

Metastatic melanoma develops once transformed melanocytic cells begin to de-differentiate into migratory and invasive melanoma cells with neural crest cell (NCC)-like and epithelial-to-mesenchymal...
Nat Commun - issue: 1 - volume: 14 - pages: 1867.

Amelot, A.  et al. 2023

Natural Course and Prognosis of Primary Spinal Glioblastoma: A Nationwide Study

BACKGROUND AND OBJECTIVES: Primary spinal glioblastoma (PsGBM) is extremely rare. The dramatic neurologic deterioration and unresectability of PsGBM makes it a particularly disabling malignant...
Neurology - issue: 14 - volume: 100 - pages: e1497-e1509.

Boissonneau, S.  et al. 2023

Postoperative complications in cranial and spine neurosurgery: a prospective observational study

BACKGROUND: Postoperative complications do occur in all neurosurgical departments, but the way they are defined, and their true incidence vary a lot. The aim of the present study was to objectively...
J Neurosurg Sci - issue: 2 - volume: 67 - pages: 157-167.

Choucha, A.  et al. 2023

Meningoencephalitis with refractory intracranial hypertension: consider decompressive craniectomy

The benefits of decompressive craniectomy (DC) have been demonstrated in malignant ischemic stroke and traumatic brain injuries with refractory intracranial hypertension (ICH) by randomized controlled...
J Neurosurg Sci - issue: 2 - volume: 67 - pages: 248-256.

Darsaut, TE.  et al. 2023

Surgical treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial

OBJECTIVE: The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The...
J Neurosurg - issue: 4 - volume: 138 - pages: 891-899.

Castinetti, F.  et al. 2023

Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored

Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of treated...
Clin Endocrinol (Oxf) - issue: 4 - volume: 98 - pages: 629-630.

Fodil-Cherif, S.  et al. 2023

Updates in neuroendocrine neoplasms: From mechanisms to the clinic

Scientific advances constantly improve our understanding of the mechanisms underlying tumorigenesis, allowing us now to analyze cancer in a more precise manner and to identify at an earlier stage the...
Ann Endocrinol (Paris) - issue: 2 - volume: 84 - pages: 291-297.

Avinens, V.  et al. 2023

Radiological analysis of minimally invasive treatment of type A thoracolumbar fractures based on a series of 135 fractures

INTRODUCTION: Although the reduction of traumatic fractures of the thoracolumbar spine is of good quality during conventional so-called open procedures, the alternative minimally invasive approach...
Orthop Traumatol Surg Res - issue: 2 - volume: 109 - pages: 103486.

Odelin, G.  et al. 2023

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5-1.2% of the population. Although highly heritable, few causal mutations have been identified in BAV patients....
Nat Commun - issue: 14 - volume: - pages: 1543.

Levaillant, L.  et al. 2023

The Severity of Congenital Hypothyroidism with Gland-in-situ Predicts Molecular Yield by Targeted NGS

INTRODUCTION: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad119.

Lambert, J.  et al. 2023

Tracking clusters of patients over time enables extracting information from medico-administrative databases

Objective: We propose here cluster-tracking approaches to identify clusters of patients from truncated longitudinal data contained in medico-administrative databases. Material and Methods: We first...
Journal of Biomedical Informatics - issue: - volume: 139 - pages: 104309.

Jaouadi, H.  et al. 2023

Expanding the phenome and variome of the ROBO‑SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

Background Recent studies have shown the implication of the ROBO-SLIT pathway in heart development. Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in...
J Transl Med - issue: 21 - volume: - pages: 160.

Abaji, M.  et al. 2023

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.

The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic...
J Med Genet - issue: - volume: - pages: jmedgenet-2022-108677.

Petolat, E.  et al. 2023

Prognostic value of forward flow indices in primary mitral regurgitation due to mitral valve prolapse

Background: Degenerative mitral regurgitation (DMR) due to mitral valve prolapse (MVP) is a common valve disease associated with significant morbidity and mortality. Timing for surgery is debated for...
Front Cardiovasc Med - issue: - volume: - pages: .

Zaffran, S.  et al. 2023

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation-contraction coupling and modulating the systolic and diastolic phases. Defective...
Int J Mol Sci - issue: 24 - volume: 4 - pages: 3365.

Brock, S.  et al. 2023

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

BACKGROUND: Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the...
J Med Genet - issue: 2 - volume: 60 - pages: 183-192.

Bando, H.  et al. 2023

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable...
Hum Mol Genet - issue: 3 - volume: 32 - pages: 367-385.

Barbieux, S.  et al. 2023

Genetic evidence of a sarcomatoid transformation in Merkel cell carcinoma

J Eur Acad Dermatol Venereol - issue: 1 - volume: 37 - pages: e45-e48.

Lesieur, E.  et al. 2023

Prenatal screening and diagnosis of pulmonary artery anomalies: a review

Congenital pulmonary vascular anomalies are rare. Antenatal diagnosis of these vascular anomalies requires a good knowledge of fetal cardiac anatomy because clinical presentations are variable. In...
Ultrasound Obstet Gynecol - issue: - volume: 61 - pages: 445–457.

Parenti, I.  et al. 2022

The different clinical facets of SYN1-related neurodevelopmental disorders.

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders...
Front Cell Dev Biol - issue: - volume: 10 - pages: 1019715.