Tabarin, A. et al. 2022 Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome. Cushing's syndrome is defined by prolonged exposure to glucocorticoids, leading to excess morbidity and mortality. Diagnosis of this rare pathology is difficult due to the low specificity of the... Ann Endocrinol (Paris) - issue: 2 - volume: 83 - pages: 119-141.
Bouvier, C. et al. 2022 [Soft tissue tumours with FN1 (Fibronectin 1) fusion gene]. Translocations involving FN1 gene have been described in several tumours, which share the presence of a cartilaginous matrix with or without calcifications and a good prognosis. They encompass: soft... Ann Pathol - issue: 3 - volume: 42 - pages: 242-248.
Rouen, A. et al. 2022 Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families. OBJECTIVE: To study the diagnostic yield, including variants in genes yet to be incriminated, of whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI). DESIGN:... Fertil Steril - issue: 4 - volume: 117 - pages: 843-853.
Aouchiche, K. et al. 2022 Teriparatide administration by the Omnipod pump: preliminary experience from two cases with refractory hypoparathyroidism. CONTEXT: Hypoparathyroidism (hypoPTH) in adults is mainly due to total thyroidectomy. Conventional therapies (calcium, active vitamin D) can fail to normalize calcemia, expose the patient to... Endocrine - issue: 1 - volume: 76 - pages: 179-188.
Castinetti, F. et al. 2022 Controversies about the systematic preoperative pharmacological treatment before pheochromocytoma or paraganglioma surgery. The question of systematic use of a pharmacological treatment before surgery in patients diagnosed with pheochromocytoma and paraganglioma (PPGL) remains highly controversial. While recent guidelines... Eur J Endocrinol - issue: 5 - volume: 186 - pages: D17-D24.
Molines, E. et al. 2022 [BRAF mutation evolution in melanoma: Myth or reality?]. Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated... Ann Pathol - issue: 2 - volume: 42 - pages: 113-118.
Arnaud, L. et al. 2022 The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies. BACKGROUND: The EPIGENE network was created in 2014 by four multidisciplinary teams composed of geneticists, pediatric neurologists and neurologists specialized in epileptology and neurophysiology.... Eur J Med Genet - issue: 3 - volume: 65 - pages: 104445.
Jaouadi, H. et al. 2022 Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life-threatening arrhythmias, a normal resting electrocardiogram and the absence of overt... Clin Case Rep - issue: 10 - volume: 2 - pages: e05339.
Sahakian, N. et al. 2022 Current and Emerging Medical Therapies in Pituitary Tumors. Pituitary tumors (PT) represent in, the majority of cases, benign tumors for which surgical treatment still remains, except for prolactin-secreting PT, the first-line therapeutic option. Nonetheless,... J Clin Med - issue: 4 - volume: 11 - pages: .
Lasbleiz, A. et al. 2022 Familial hypocalciuric hypercalcemia: the challenge of diagnosis. Endocrine - issue: 2 - volume: 75 - pages: 646-649.
d'Artigues, J. et al. 2022 Fully endoscopic endonasal approach for the treatment of intrasellar arachnoid cysts. PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC... Pituitary - issue: 1 - volume: 25 - pages: 191-200.
Gaudy-Marqueste, C. et al. 2022 Molecular characterization of fast-growing melanomas. BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high... J Am Acad Dermatol - issue: 2 - volume: 86 - pages: 312-321.
Wilmerding, A. et al. 2022 Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis The MAPK/ERK pathway regulates a variety of physiological cellular functions, including cell proliferation and survival. It is abnormally activated in many types of human cancers in response to driver... Neoplasia - issue: 2 - volume: 24 - pages: 120-132.
Macagno, N. et al. 2022 Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors. Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological... Cancers (Basel) - issue: 3 - volume: 14 - pages: .
Rochdi, K. et al. 2022 Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder BACKGROUND AND AIMS: The identification of underlying genes of genetic conditions has expanded greatly in the past decades, which has broadened the field of genes responsible for inherited... Clin Chim Acta - issue: - volume: 524 - pages: 51-58.
Soghomonian, A. et al. 2022 Letter to the Editor from Soghomonian et al.: "Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome". J Clin Endocrinol Metab - issue: 1 - volume: 107 - pages: e434-e435.
Soghomonian, A. et al. 2022 Letter to the Editor from Soghomonian et al.: "Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome". J Clin Endocrinol Metab - issue: 1 - volume: 107 - pages: e434-e435.
Ballouhey, O. et al. 2021 The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle... Front Cell Dev Biol - issue: - volume: 9 - pages: 754555.
Borloz, E. et al. 2021 Rett syndrome: think outside the (skull) box. Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder characterized by neurodevelopmental regression between 6 and 18 months of life and associated with multi-system comorbidities.... Fac Rev - issue: - volume: 10 - pages: 59.
Haniffa, M. et al. 2021 Human Developmental Cell Atlas: milestones achieved and the roadmap ahead The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be... - issue: - volume: - pages: in review.