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Journal Article
Endocrine Journal, ISSN 0918-8959, 2017
Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent... 
Armadillo repeat containing 5 (ARMC5) | Gene | Pedigree | Whole-genome sequencing
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 06/2016, Volume 174, Issue 6, pp. R249 - R265
The last decade witnessed the emergence of genomics, a set of high-throughput molecular measurements in biological samples. These pan-genomic and agnostic... 
MOLECULAR CLASSIFICATION | ALDOSTERONE-PRODUCING ADENOMAS | CUSHINGS-SYNDROME | DNA METHYLATION | WNT/BETA-CATENIN | MACRONODULAR ADRENAL-HYPERPLASIA | ENDOCRINOLOGY & METABOLISM | GENE-EXPRESSION PROFILES | ARMC5 MUTATIONS | CARNEY COMPLEX | SOMATIC MUTATIONS
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2019, Volume 104, Issue 7, pp. 2985 - 2993
Context: Unilateral adrenalectomy has been proposed in selected patients with primary bilateral macronodular adrenocortical hyperplasia (PBMAH), but its... 
ARMC5 MUTATIONS | DIAGNOSIS | CUSHINGS-SYNDROME | QUALITY-OF-LIFE | ENDOCRINOLOGY & METABOLISM
Journal Article
Annals of Endocrinology (Annales D'Endocrinologie, English Edition), ISSN 0003-4266, 2014, Volume 75, pp. S37 - S45
Journal Article
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 10/2015, Volume 173, Issue 4, pp. 435 - 440
Objective: Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing's syndrome (CS) that results in increased cortisol production and... 
HETEROGENEITY | ADRENAL-HYPERPLASIA | DISEASE | ENDOCRINOLOGY & METABOLISM | Adrenalectomy | Genetic Variation | Cushing Syndrome - surgery | Cushing Syndrome - genetics | Humans | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Adult | Female | Mutation | Index Medicus | macronodular adrenal hyperplasia | PMAH | Cushing’s syndrome | ARMC5
Journal Article
EUROPEAN JOURNAL OF ENDOCRINOLOGY, ISSN 0804-4643, 08/2018, Volume 179, Issue 2, pp. R57 - R67
The investigation and management of unilateral adrenal incidentalomas have been extensively considered in the last decades. While bilateral adrenal... 
HORMONE-RECEPTORS | IMAGING CHARACTERIZATION | 21-HYDROXYLASE DEFICIENCY | CORTISOL HYPERSECRETION | MACRONODULAR ADRENOCORTICAL HYPERPLASIA | ENDOCRINOLOGY & METABOLISM | CLINICAL-PRACTICE GUIDELINE | ARMC5 MUTATIONS | SUBCLINICAL CUSHINGS-SYNDROME | OF-THE-LITERATURE | UNILATERAL ADRENALECTOMY
Journal Article
Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 07/2019, Volume 191, pp. 105316 - 105316
Journal Article
Molecular and Cellular Endocrinology, ISSN 0303-7207, 01/2018, Volume 460, Issue C, pp. 36 - 46
Journal Article
Annales d'Endocrinologie, ISSN 0003-4266, 10/2014, Volume 75, Issue 1, pp. S37 - S45
The development of molecular biology tools has allowed major advances in the genetic determinism and the pathophysiology of pheochromocytomas and Conn's... 
ARMC5 mutations | PRKACA mutations | Subclinical cortisol-secreting adenomas | Bilateral macronodular adrenal hyperplasia (AIMAH) | ACTH-independent cushing's syndrome
Journal Article
Journal of Medical Case Reports, ISSN 1752-1947, 01/2018, Volume 12, Issue 1, pp. 13 - 13
Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome characterized by the presence of bilateral secretory adrenal nodules.... 
Exophthalmos | Cushing's syndrome | ARMC5 | PBMAH | Gene mutations | Hyperplasia | Medical genetics | Causes of | Genetic aspects | Research | Index Medicus | Cushing’s syndrome
Journal Article
MINERVA ENDOCRINOLOGICA, ISSN 0391-1977, 06/2019, Volume 44, Issue 2, pp. 205 - 220
Bilateral macronodular adrenal hyperplasia (BMAH) is a relatively rare cause of Cushing's Syndrome (CS). In recent years, growing evidence has shown that... 
MOLECULAR CHARACTERIZATION | Adrenal glands | ADRENOCORTICAL TUMOR | INHIBITORY POLYPEPTIDE-RECEPTOR | UNILATERAL ADRENALECTOMY | MEMBRANE HORMONE-RECEPTORS | Therapeutics | IN-VIVO | ENDOCRINOLOGY & METABOLISM | ECTOPIC EXPRESSION | ARMC5 MUTATIONS | CORTISOL SECRETION | Cushing Syndrome | ABERRANT EXPRESSION
Journal Article
ANNALES D ENDOCRINOLOGIE, ISSN 0003-4266, 10/2014, Volume 75, pp. S37 - S45
The development of molecular biology tools has allowed major advances in the genetic determinism and the pathophysiology of pheochromocytomas and Conn's... 
Bilateral Macronodular Adrenal Hyperplasia (AIMAH) | HYPERPLASIA | ARMC5 mutations | ACTH-independent Cushing's syndrome | PRKACA mutations | Subclinical Cortisol-Secreting Adenomas | ENDOCRINOLOGY & METABOLISM | GENE-EXPRESSION | VASOPRESSIN | CORTISOL SECRETION | INCIDENTALOMA | RECEPTORS | PRKACA | CORTICOTROPIN
Journal Article
Endocrine Reviews, ISSN 0163-769X, 08/2017, Volume 38, Issue 6, pp. 516 - 537
Journal Article