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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.