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Results: 2706  publications found.

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.

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.

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.

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.

Ozisik, O.  et al. 2022

orsum: a Python package for filtering and comparing enrichment analyses using a simple principle

Background:  Enrichment analyses are widely applied to investigate lists of genes of interest. However, such analyses often result in long lists of annotation terms with high redundancy, making the...
BMC Bioinformatics - issue: 1 - volume: 23 - pages: 293.

Fourneaux, R.  et al. 2022

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

DESIGN: Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis, or associated with other pituitary...
Eur J Endocrinol - issue: 6 - volume: 187 - pages: 787-795.

Valassi, E.  et al. 2022

Corticotroph tumor progression after bilateral adrenalectomy: data from ERCUSYN.

Corticotroph tumor progression after bilateral adrenalectomy/Nelson's syndrome (CTP-BADX/NS) is a severe complication of bilateral adrenalectomy (BADX). The aim of our study was to investigate the...
Endocr Relat Cancer - issue: 12 - volume: 29 - pages: 681-691.

Husebye, ES.  et al. 2022

Endocrine-related adverse conditions in patients receiving immune checkpoint inhibition: an ESE clinical practice guideline.

Immune checkpoint inhibitors (ICI) have revolutionized cancer treatment but are associated with significant autoimmune endocrinopathies that pose both diagnostic and treatment challenges. The aim of...
Eur J Endocrinol - issue: 6 - volume: 187 - pages: G1-G21.

Jaouadi, H.  et al. 2022

SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse

Mitral valve prolapse (MVP) is a common valvular heart defect with variable outcomes. Several studies reported MVP as an underestimated cause of life-threatening arrhythmias and sudden cardiac death...
Int J Mol Sci - issue: 23 - volume: 22 - pages: 14447.

Fourneaux, R.  et al. 2022

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.

INTRODUCTION: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we describe four...
Horm Res Paediatr - issue: 3 - volume: 95 - pages: 296-303.

Rodier, C.  et al. 2022

Metoclopramide Test in Hyperprolactinemic Women With Polycystic Ovarian Syndrome: Old Wine Into New Bottles?

INTRODUCTION: Polycystic ovarian syndrome (PCOS) is the most frequent etiology of anovulation, hyperandrogenism and infertility in women. Its pathophysiology remains poorly elucidated....
Front Endocrinol (Lausanne) - issue: - volume: 13 - pages: 832361.

Lagarde, A.  et al. 2022

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.

PURPOSE: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS)...
Endocr Connect - issue: 11 - volume: 11 - pages: .

Ilie, MD.  et al. 2022

Real-life efficacy and predictors of response to immunotherapy in pituitary tumors: a cohort study.

OBJECTIVE: After temozolomide failure, no evidence-based treatment is available for pituitary carcinomas (PCs) and aggressive pituitary tumors (APTs). To date, only 12 cases treated with...
Eur J Endocrinol - issue: 5 - volume: 187 - pages: 685-696.

Fallo, F.  et al. 2022

Diagnosis and management of hypertension in patients with Cushing's syndrome: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.

Endogenous/exogenous Cushing's syndrome is characterized by a cluster of systemic manifestations of hypercortisolism, which cause increased cardiovascular risk. Its biological basis is glucocorticoid...
J Hypertens - issue: 11 - volume: 40 - pages: 2085-2101.

Marechal, E.  et al. 2022

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling

Abstract Recurrent missense mutations of the PIK3CA oncogene are among the most frequent drivers of human cancers. These often lead to constitutive...
Front Cell Dev Biol - issue: - volume: 10 - pages: 1013001.

Picard, C.  et al. 2022

Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.

Ewing sarcoma (ES) is a highly malignant round cell sarcoma, characterized by gene fusion involving FET (FUS, EWSR1, TAF15) and ETS family genes, respectively. The involvement of the EWSR1 gene has...
Virchows Arch - issue: 4 - volume: 481 - pages: 665-669.

Sahakian, N.  et al. 2022

Real-life clinical impact of a five-tiered classification of pituitary tumors.

INTRODUCTION: Usually benigns, pituitary tumors (PT) can be invasive and aggressive with propensity to progress and/or recur. Trouillas's clinicopathological classification attempts to predict the...
Eur J Endocrinol - issue: - volume: - pages: EJE-22-0812.

Jensen, LR.  et al. 2022

Somatostatin analogues in treatment-refractory meningioma: a systematic review with meta-analysis of individual patient data.

Treatment-refractory meningiomas have a dismal prognosis and limited treatment options. Meningiomas express high-densities of somatostatin receptors (SSTR), thus potentially susceptible to...
Neurosurg Rev - issue: 5 - volume: 45 - pages: 3067-3081.