Associated Papers
Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia.
Xu H et al.
Endocrine Connections, 2025
Advancements in the research of the structure, function, and disease-related roles of ARMC5.
Qu Y et al.
Frontiers of Medicine, 2025
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.
Bouys L et al.
Orphanet Journal of Rare Diseases, 2025
Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.
Violon F et al.
Endocrine Pathology, 2024
Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.
Tang P et al.
Bmc Endocrine Disorders, 2023
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).
Giacché M et al.
Molecular Genetics & Genomic Medicine, 2023
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
Bouys L et al.
European Journal of Endocrinology, 2022
Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.
Jojima T et al.
European Journal of Endocrinology, 2020
ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules.
Conceição BBD et al.
Archives of Endocrinology and Metabolism, 2020
Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia.
Hannah-Shmouni F et al.
Endocrine-related Cancer, 2020
[Hereditary Cushing's syndrome caused by primary bilateral macronodular adrenal hyperplasia due to ARMC5 mutation with concomitant primary hyperparathyroidism: the first known case in Russia].
Mamedova EO et al.
Problemy Endokrinologii, 2019
A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.
Albiger NM et al.
Endocrine, 2017
Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
Drougat L et al.
European Journal of Endocrinology, 2015
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
Espiard S et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Novel Insights into the Genetics and Pathophysiology of Adrenocortical Tumors.
Drougat L et al.
Frontiers in Endocrinology, 2015
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
Gagliardi L et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
Assié G et al.
The New England Journal of Medicine, 2013