Associated Papers
Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.
Cavalcante IP et al.
Nature Reviews. Endocrinology, 2022
Disorders of the adrenal cortex: Genetic and molecular aspects.
Pitsava G et al.
Frontiers in Endocrinology, 2022
Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.
Kamilaris CDC et al.
Frontiers in Endocrinology, 2021
Adrenocortical tumorigenesis: Lessons from genetics.
Kamilaris CDC et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2020
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Genetics of Cushing's Syndrome.
Hernández-Ramírez LC et al.
Endocrinology and Metabolism Clinics of North America, 2018
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.
Chan LF et al.
European Journal of Endocrinology, 2009
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene.
Swords FM et al.
Molecular and Cellular Endocrinology, 2004
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.
Elias LL et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
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