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.

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.

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.

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: .

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.

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.

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.

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.

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.

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.

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.

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.

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.

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: .

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.

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.

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.

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.

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.

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.