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Results: 2645  publications found.

Lin, X.  et al. 2022

Mesp1 controls the chromatin and enhancer landscapes essential for spatiotemporal patterning of early cardiovascular progenitors.

The mammalian heart arises from various populations of Mesp1-expressing cardiovascular progenitors (CPs) that are specified during the early stages of gastrulation. Mesp1 is a transcription factor...
Nat Cell Biol - issue: - volume: - pages: Epub ahead of print.

Kraoua, L.  et al. 2022

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Background: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to...
Mol Genet Genomic Med - issue: 7 - volume: 10 - pages: e1954.

Baptista, A.  et al. 2022

Universal multilayer network exploration by random walk with restart

The amount and variety of data have been increasing drastically for several years. These data are often represented as networks and explored with approaches arising from network theory. Recent years...
Communications Physics - issue: 1 - volume: 5 - pages: 170.

Jaouadi, H.  et al. 2022

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease

Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical courses and disease progression. Herein, we report...
J Hum Genet - issue: - volume: - pages: Online ahead of print.

Jaouadi, H.  et al. 2022

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.

Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep intertrabecular recesses. LVNC associated with dilation is...
Int J Mol Sci - issue: 9 - volume: 23 - pages: 5205.

Lescroart, F.  et al. 2022

Single Cell Approaches to Understand the Earliest Steps in Heart Development

Purpose of review: Cardiac progenitors are the building blocks of the heart. Our knowledge, on how these progenitors build the heart, has considerably increased over the last two decades with the...
Curr Cardiol Rep - issue: - volume: - pages: .

Jaouadi, H.  et al. 2022

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life-threatening arrhythmias, a normal resting electrocardiogram and the absence of overt...
Clin Case Rep - issue: 10 - volume: 2 - pages: e05339.

Soghomonian, A.  et al. 2022

Letter to the Editor from Soghomonian et al.: "Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome".

J Clin Endocrinol Metab - issue: 1 - volume: 107 - pages: e434-e435.

Wilmerding, A.  et al. 2021

Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

The MAPK/ERK pathway regulates a variety of physiological cellular functions, including cell proliferation and survival. It is abnormally activated in many types of human cancers in response to driver...
Neoplasia - issue: 2 - volume: 24 - pages: 120-132.

Brue, T.  et al. 2021

Cost-Utility of Acromegaly Pharmacological Treatments in a French Context.

OBJECTIVE: Efficacy of pharmacological treatments for acromegaly has been assessed in many clinical or real-world studies but no study was interested in economics evaluation of these treatments in...
Front Endocrinol (Lausanne) - issue: - volume: 12 - pages: 745843.

Etchevers, HC.  et al. 2021

Pericyte Ontogeny: The Use of Chimeras to Track a Cell Lineage of Diverse Germ Line Origins.

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: - volume: 2235 - pages: 61-87.

Molines, E.  et al. 2021

[BRAF mutation evolution in melanoma: Myth or reality?].

Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated...
Ann Pathol - issue: - volume: - pages: .

Amodru, V.  et al. 2021

Synergistic cortisol suppression by ketoconazole-osilodrostat combination therapy.

SUMMARY: Here, we describe a case of a patient presenting with adrenocorticotrophic hormone-independent Cushing's syndrome in a context of primary bilateral macronodular adrenocortical hyperplasia....
Endocrinol Diabetes Metab Case Rep - issue: - volume: 2021 - pages: .

Fleseriu, M.  et al. 2021

Consensus on diagnosis and management of Cushing's disease: a guideline update.

Cushing's disease requires accurate diagnosis, careful treatment selection, and long-term management to optimise patient outcomes. The Pituitary Society convened a consensus workshop comprising more...
Lancet Diabetes Endocrinol - issue: 12 - volume: 9 - pages: 847-875.

Barraud, S.  et al. 2021

Pegvisomant treatment in acromegaly in clinical practice: Final results of the French ACROSTUDY (312 patients).

OBJECTIVE: We report the final analysis of the French ACROSTUDY, using data revised and enriched since the 2013 interim analysis. Our objective was to validate the use of pegvisomant (PEGV) in the...
Ann Endocrinol (Paris) - issue: 6 - volume: 82 - pages: 582-589.

Cantini, L.  et al. 2021

Benchmarking joint multi-omics dimensionality reduction approaches for the study of cancer

High-dimensional multi-omics data are now standard in biology. They can greatly enhance our understanding of biological systems when effectively integrated.
Nature Comm - issue: 1 - volume: 12 - pages: .

Pio-Lopez, L.  et al. 2021

MultiVERSE: a multiplex and multiplex-heterogeneous network embedding approach

Abstract Network embedding approaches are gaining momentum to analyse a large variety of networks. Indeed, these approaches have demonstrated their effectiveness in tasks...
Sci Rep - issue: 1 - volume: 11 - pages: 8794.

Castinetti, F.  et al. 2021

Lack of delayed neurocognitive side effects of Gamma Knife radiosurgery in acromegaly: the Later-Ac study.

INTRODUCTION: Persistent growth hormone hypersecretion can be observed in roughly 50% of patients operated for somatotroph adenomas, requiring additional treatments. Despite its proven antisecretory...
Eur J Endocrinol - issue: 1 - volume: 186 - pages: 37-44.

Le Bras, M.  et al. 2021

Pituitary adenoma in patients with multiple endocrine neoplasia type 1: a cohort study.

OBJECTIVE: Pituitary adenoma (PA) is one of the three major components of multiple endocrine neoplasia type 1 (MEN1). Recent studies have suggested that MEN1-associated PAs are less aggressive than...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: 863-873.

Brue, T.  et al. 2021

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform.

Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: C19-C25.