Aubert Mucca, M. et al. 2021 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: - volume: - pages: jmedgenet-2020-107511.
Lo Barco, T. et al. 2021 SYNGAP1-DEE: A visual sensitive epilepsy OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available... Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.
Salvi, A. et al. 2021 A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic... Clin Genet - issue: - volume: - pages: .
Ho, K. et al. 2021 Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time? The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some... J Endocr Soc - issue: 3 - volume: 5 - pages: bvaa205.
Hochman, C. et al. 2021 Pre-term birth in women exposed to Cushing's disease: the baby-cush study. DESIGN: Hypercortisolism during pregnancy is a risk factor for prematurity. Long-term exposure to hypercortisolism may lead to permanent comorbidities, such as hypertension or diabetes, even after... Eur J Endocrinol - issue: 3 - volume: 184 - pages: 469-476.
Reincke, M. et al. 2021 Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations. BACKGROUND: Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease.... Eur J Endocrinol - issue: 3 - volume: 184 - pages: P1-P16.
Oei, W. et al. 2021 Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research Br J Dermatol - issue: 185 - volume: 2 - pages: 371-379.
Whalen, S. et al. 2021 Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families... Eur J Hum Genet - issue: - volume: - pages: .
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: 10.1007/978-1-0716-1056-5_6 - volume: 2235 - pages: 61-87.
Matagne, V. et al. 2021 Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent genetic... Neurobiol Dis - issue: - volume: 149 - pages: 105235.
Castinetti, F. et al. 2021 The risks of medical treatment of prolactinoma. First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been... Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 15-19.
Amodru, V. et al. 2021 Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives. Adrenocortical carcinoma is a rare malignant tumor of poor prognosis, frequently requiring additional treatments after initial surgery. Due to its adrenolytic action, mitotane has become the... Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 52-58.
Castinetti, F. et al. 2021 Positron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal? Medullary thyroid carcinomas (MTC) are rare neoplasms derived from calcitonin-secreting cells of the thyroid. They can occur sporadically or as part of the multiple endocrine neoplasia type 2... Thyroid - issue: 2 - volume: 31 - pages: 151-155.
Jullien, N. et al. 2021 Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort. CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution... Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.
Salgues, B. et al. 2021 Risk stratification of adrenal masses by [(18) F]FDG PET/CT: Changing tactics. CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the... Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.
Buisset, C. et al. 2021 Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience. BACKGROUND: Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains significant. The aim of this study was... Surg Endosc - issue: 2 - volume: 35 - pages: 728-735.
Guénantin, A. et al. 2021 Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy LMNA mutations in patients are responsible for a dilated cardiomyopathy. Molecular mechanisms underlying the origin and development of the pathology are unknown. Herein, using mouse pluripotent... J Clin Invest - issue: 1 - volume: 131 - pages: 136488.
André, M. et al. 2021 The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of... Arch Pediatr - issue: 1 - volume: 28 - pages: 87-92.
Kuhn, E. et al. 2021 Correction to: Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study. Endocrine - issue: 1 - volume: 71 - pages: 265.
Gerard, C. et al. 2021 Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms. Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite... Endocr Relat Cancer - issue: 1 - volume: 28 - pages: 39-51.