Associated Papers
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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.
Lu YT et al.
Journal of Translational Medicine, 2022
Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child.
Gulhan B et al.
Blood Pressure Monitoring, 2022
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
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
Variants of 11β-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 in Chinese obese adolescents.
Ruan LL et al.
Journal of Endocrinological Investigation, 2014
HSD11B2 CA-repeat and sodium balance.
Mune T et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 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
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
Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.
Kamide K et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006
Apparent mineralocorticoid excess syndrome: an overview.
Palermo M et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.
Lavery GG et al.
Hypertension (dallas, Tex. : 1979), 2003
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
Apparent mineralocorticoid excess.
Wilson RC et al.
Trends in Endocrinology and Metabolism: Tem, 2001
Role of the 11beta-hydroxysteroid dehydrogenase type 2 in blood pressure regulation.
Ferrari P et al.
Kidney International, 2000
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
A genetic defect resulting in mild low-renin hypertension.
Wilson RC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
Kitanaka S et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0