Aubert Mucca, M. et al. 2022 Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical... J Med Genet - issue: 5 - volume: 59 - pages: 505-510.
Biba-Maazou, N. et al. 2022 Time-limited alterations in cortical activity of a knock-in mouse model of KCNQ2-related developmental and epileptic encephalopathy. De novo missense variants in the KCNQ2 gene encoding the Kv7.2 subunit of voltage-gated potassium Kv7/M channels are the main cause of developmental and epileptic encephalopathy with neonatal onset.... J Physiol - issue: 10 - volume: 600 - pages: 2429-2460.
Mennetrey, C. et al. 2022 Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease. CONTEXT: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to... J Clin Endocrinol Metab - issue: 5 - volume: 107 - pages: e2056-e2064.
Cointe, S. et al. 2022 Granulocyte microvesicles with a high plasmin generation capacity promote clot lysis and improve outcome in septic shock. Microvesicles (MVs) have previously been shown to exert profibrinolytic capacity, which is increased in patients with septic shock (SS) with a favorable outcome. We, therefore, hypothesized that the... Blood - issue: 15 - volume: 139 - pages: 2377-2391.
Lescroart, F. et al. 2022 Single Cell Approaches to Understand the Earliest Steps in Heart Development Purpose of review: Cardiac progenitors are the building blocks of the heart. Our knowledge, on how these progenitors build the heart, has considerably increased over the last two decades with the... Curr Cardiol Rep - issue: - volume: - pages: .
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: .
Theron, A. et al. 2022 Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve Although bicuspid aortic valve (BAV) is one of the most common congenital heart diseases, clinical data associated with valve dysfunction are still limited. We evaluated clinical characteristics and... Int J Cardiovasc Imaging - issue: 1 - volume: 38 - pages: 51-59.