Aouchiche, K. et al. 2025 Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency The aim of this study is to analyze the clinical characteristics of isolated growth hormone deficiency (IGHD) patients with GH1, GHRHR, and GHSR variants and their response to growth hormone (GH)... Eur J Pediatr - issue: 12 - volume: 184 - pages: 812.
Aouchiche, K. et al. 2025 Sucessful Transition in Rare Endocrine Diseases: Patient Experiences in a French Reference Centre OBJECTIVE: This study aimed to evaluate the experiences of patients who had a joint endocrinology consultation for transition to adult care at Marseille university hospitals between 2010 and 2020,... Clin Endocrinol (Oxf) - issue: 6 - volume: 103 - pages: 833-840.
Fauquier, T. et al. 2025 Pituitary organoids as models for congenital pituitary deficiencies Pituitary deficiencies, or hypopituitarisms, are defined as insufficient production of one or more adenohypophyseal hormones (growth hormone, TSH, ACTH, LH-FSH and prolactin). Congenital... Presse Med - issue: 4 - volume: 54 - pages: 104299.
Brue, T. et al. 2025 Stem cells and organoids in endocrinology Presse Med - issue: 4 - volume: 54 - pages: 104298.
Ascone, G. et al. 2025 Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia Osteoglophonic Dysplasia (OGD) is an autosomal dominant skeletal dysplasia characterized by impaired bone growth resulting in short stature, severe craniofacial abnormalities, and in some patients... bioRxiv - issue: - volume: - pages: 2025.11.14.680268.
Machese, D. et al. 2025 Loss of primary cilia triggers leaflet remodelling and bicuspid aortic valve formation Cardiovasc Res - issue: - volume: - pages: cvaf150.
Valetopoulou, A. et al. 2025 A core outcome set for pituitary surgery research: an international delphi consensus study PURPOSE: This study aimed to develop a core outcome set (COS) for pituitary surgery to enhance the quality, efficiency and effectiveness of future pituitary adenoma surgery research. METHODS:... Pituitary - issue: 4 - volume: 28 - pages: 88.
Louis, J. et al. 2025 Long-term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathy. OBJECTIVE: Carbamazepine is the first line treatment for patients affected by KCNQ2 developmental and epileptic encephalopathy. It is efficient to reduce or stop seizures in this context. However,... Epilepsia Open - issue: - volume: - pages: .
Adamo-Croux, M. et al. 2025 GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features. Pathogenic variants in γ-aminobutyric acid type A (GABA(A)) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding... Epilepsia - issue: - volume: - pages: .
Pierret, C. et al. 2025 Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome. The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage-gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with... Epilepsia - issue: - volume: - pages: .
Miquel, L. et al. 2025 Deciphering the Presentation and Etiologies of Hypophysitis Highlights the Need for Repeated Systematical Investigation CONTEXT: Hypophysitis is defined as an inflammation of the pituitary gland and/or infundibulum. OBJECTIVE: Our aim was to characterize the initial course and evolution of patients with hypophysitis... J Clin Endocrinol Metab - issue: 6 - volume: 110 - pages: e1767-e1775.
Donati, M. et al. 2025 Clinical, Morphologic, and Genomic Findings in Spitz Tumors With RET Fusion: A Series of 31 Cases RET-fused Spitz neoplasms represent a rare and poorly characterized category of Spitz tumors. Here we describe the clinical, histologic, and molecular findings of 31 Spitz neoplasms with RET fusion... Mod Pathol - issue: 5 - volume: 38 - pages: 100740.
Aldea, D. et al. 2025 Deconvoluted Methylation Profiles Discriminate between Closely Related Melanocytic Nevi J Invest Dermatol - issue: 5 - volume: 145 - pages: 1222-1226.e4.
Aouchiche, K. et al. 2025 CSNK2B Mutation: A Rare Cause of IGHD OBJECTIVE: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are... Clin Endocrinol (Oxf) - issue: 4 - volume: 102 - pages: 421-426.
Cali, E. et al. 2025 Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. PURPOSE: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant... Genet Med - issue: 4 - volume: 27 - pages: 101251.
Piazzola, C. et al. 2025 Desmopressin is a safe and effective secretagogue to replace corticotropin-releasing hormone in petrosal sinus sampling PURPOSE: Bilateral inferior petrosal sinus sampling (BIPSS) with corticotropin-releasing hormone (CRH) was the gold standard for distinguishing Cushing disease (CD) from ectopic ACTH secretion (EAS).... Ann Endocrinol (Paris) - issue: 2 - volume: 86 - pages: 101678.
Le Collen, L. et al. 2025 Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability? We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a... Ann Endocrinol (Paris) - issue: 2 - volume: 86 - pages: 101680.
De Bono, C. et al. 2025 Multi-modal refinement of the human heart atlas during the first gestational trimester. Forty first-trimester human hearts were studied to lay groundwork for further studies of principles underlying congenital heart defects. We first sampled 49,227 cardiac nuclei from three fetuses at... Development - issue: 152 - volume: 5 - pages: DEV204555.
, . et al. 2025 PFMG2025-integrating genomic medicine into the national healthcare system in France. Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patients.... Lancet Reg Health Eur - issue: - volume: 50 - pages: 101183.
Aouchiche, K. et al. 2025 Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants OBJECTIVE: To analyze the phenotype and genotype of patients with congenital hypopituitarism (CH) and pathogenic (P) GLI2 variants. METHODS: A large cohort of patients with hypopituitarism was... Eur J Endocrinol - issue: 2 - volume: 192 - pages: 110-118.