Associated Papers
Novel homozygous pathogenic variant in HSD11B2 as a cause of apparent mineralocorticoid excess.
Roche-Gomez A et al.
Journal of Hypertension, 2025
Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Charoenngam N et al.
Orphanet Journal of Rare Diseases, 2025
Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.
Vallabhaneni P et al.
Cen Case Reports, 2025
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.
Lu YT et al.
Journal of Translational Medicine, 2022
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Fan P et al.
Endocrine, 2020
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.
Carvajal CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Yau M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation.
Pizzolo F et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Apparent mineralocorticoid excess (AME) syndrome.
Parvez Y et al.
Indian Pediatrics, 2013
The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension.
Ferrari P
Biochimica Et Biophysica Acta, 2010
In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.
Manning JR et al.
Physiological Genomics, 2010
Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.
Bockenhauer D et al.
Nephron. Physiology, 2010
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience.
Morineau G et al.
Journal of the American Society of Nephrology : Jasn, 2006
Apparent mineralocorticoid excess syndrome: an overview.
Palermo M et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Hypertension and the cortisol-cortisone shuttle.
Quinkler M et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.
White PC
The American Journal of the Medical Sciences, 2001
The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.
Ferrari P et al.
Journal of Hypertension, 2000
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.
Nunez BS et al.
Hypertension (dallas, Tex. : 1979), 1999