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.
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.
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.
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.
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.
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.
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.
Molines, E. et al. 2021 [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: - volume: - pages: .
Amodru, V. et al. 2021 Synergistic cortisol suppression by ketoconazole-osilodrostat combination therapy. SUMMARY: Here, we describe a case of a patient presenting with adrenocorticotrophic hormone-independent Cushing's syndrome in a context of primary bilateral macronodular adrenocortical hyperplasia.... Endocrinol Diabetes Metab Case Rep - issue: - volume: 2021 - pages: .