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Results: 3193  publications found.

Charnay, T.  et al. 2022

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive...
Front Endocrinol (Lausanne) - issue: - volume: 13 - pages: 1080649.

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.

Davalos, V.  et al. 2022

An epigenetic switch controls the expression of an alternative NR2F2 isoform that unleashes a pro-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...
- issue: - volume: - pages: forthcoming.

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.

Leitão, E.  et al. 2022

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of...
Nat Commun - issue: 1 - volume: 13 - pages: 6570.

Brun, L.  et al. 2022

Mouse models of Kcnq2 dysfunction.

Variants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epileptic disorders ranging from a benign form with self-limited epileptic seizures and normal development to severe forms with...
Epilepsia - issue: 11 - volume: 63 - pages: 2813-2826.

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.

Maillard, P.  et al. 2022

Molecular and clinical descriptions of patients with GABA(A) receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

OBJECTIVE: γ-Aminobutyric acid (GABA)(A) -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming...
Epilepsia - issue: 10 - volume: 63 - pages: 2519-2533.

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.

Castinetti, F.  et al. 2022

Cushing's disease: role of preoperative and primary medical therapy.

Transsphenoidal surgery is the first-line treatment for Cushing's disease. However, some situations may require the use of a primary medical treatment, such as in patients with severe...
Pituitary - issue: 5 - volume: 25 - pages: 737-739.

Goren, S.  et al. 2022

Diagnostic Rechallenge with (18)F-FCH PET/CT Often Allows Minimally Invasive Parathyroidectomy While Maintaining Exceptional Cure Rates.

BACKGROUND: Minimally invasive parathyroidectomy (MIP) has gained acceptance as the preferred surgical procedure for management of primary hyperparathyroidism (pHPT). Appropriate selection of...
World J Surg - issue: 10 - volume: 46 - pages: 2409-2415.

Lagarde, A.  et al. 2022

Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the literature, few cases of MEN1 have been reported because...
J Clin Endocrinol Metab - issue: 10 - volume: 107 - pages: e4154-e4158.