Associated Papers
Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.
Cavalcante IP et al.
Nature Reviews. Endocrinology, 2022
High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia.
Berthon A et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate.
Hannah-Shmouni F et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2018
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A et al.
Endocrine-related Cancer, 2015
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay SF et al.
Orphanet Journal of Rare Diseases, 2015
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
Azevedo MF et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
Vezzosi D et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Horvath A et al.
Cancer Research, 2009
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