Associated Papers
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Abuduxikuer K et al.
Frontiers in Endocrinology, 2019
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
Bizzarri C et al.
Italian Journal of Pediatrics, 2016
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.
Habeb AM et al.
European Journal of Pediatrics, 2013
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Adrenocorticotropin resistance syndromes.
Cooray SN et al.
Endocrine Development, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
Selva KA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.
Flück CE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.
Penhoat A et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Tall stature in familial glucocorticoid deficiency.
Elias LL et al.
Clinical Endocrinology, 2000
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