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.
Etchevers, HC. et al. 2021 Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include... Methods Mol Biol - issue: - volume: 2235 - pages: 61-87.
Brue, T. et al. 2021 Cost-Utility of Acromegaly Pharmacological Treatments in a French Context. OBJECTIVE: Efficacy of pharmacological treatments for acromegaly has been assessed in many clinical or real-world studies but no study was interested in economics evaluation of these treatments in... Front Endocrinol (Lausanne) - issue: - volume: 12 - pages: 745843.