A genetic defect resulting in mild low-renin hypertension

Cloning and tissue distribution of the human 1 lβ-hydroxysteroid dehydrogenase type 2 enzyme

1994 • 707 citations

Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase

1995 • 621 citations

A Syndrome of Apparent Mineralocorticoid Excess Associated with Defects in the Peripheral Metabolism of Cortisol*

1979 • 490 citations

Premature Adrenarche - A Common Condition with Variable Presentation

2015 • 444 citations

The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization.

1991 • 434 citations

Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle.

1988 • 420 citations

Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research

1993 • 247 citations

Immunohistochemical localization of the 11 beta-hydroxysteroid dehydrogenase type II enzyme in human kidney and placenta.

1995 • 243 citations

Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene

1996 • 235 citations

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

1995 • 200 citations

Serum Androgens in Normal Prepubertal and Pubertal Children and in Children with Precocious Adrenarche

1976 • 193 citations

Evidence for an Unidentified Steroid in a Child with Apparent Mineralocorticoid Hypertension

1977 • 192 citations

Examination of Genotype and Phenotype Relationships in 14 Patients with Apparent Mineralocorticoid Excess¹

1998 • 177 citations

The Syndrome of Apparent Mineralocorticoid Excess: Its Association with 1 lβ –Dehydrogenase and 5β –Reductase Deficiency and Some Consequences for Corticosteroid Metabolism*

1986 • 143 citations

The mineralocorticoid receptor discriminates aldosterone from glucocorticoids independently of the 11 beta-hydroxysteroid dehydrogenase.

1994 • 140 citations

Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

1995 • 138 citations

Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.

1995 • 129 citations

llβ-Hydroxysteroid Dehydrogenase Activity in the Renal Target Cells of Aldosterone*

1991 • 121 citations

AN ABNORMALITY IN STEROID REDUCTIVE METABOLISM IN A HYPERTENSIVE SYNDROME

1977 • 114 citations

Detection of human 11β-hydroxysteroid dehydrogenase isoforms using reverse-transcriptase-polymerase chain reaction and localization of the type 2 isoform to renal collecting ducts

1995 • 106 citations

CONGENITAL 11β‐HYDROXYSTEROID DEHYDROGENASE DEFICIENCY ASSOCIATED WITH JUVENILE HYPERTENSION: CORTICOSTEROID METABOLITE PROFILES OF FOUR PATIENTS AND THEIR FAMILIES

1985 • 102 citations

Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency.

1993 • 99 citations

Combined radioimmunoassay of four steroids in one ml of plasma: II. Androgens

1975 • 76 citations

Apparent mineralocorticoid excess in a Brazilian kindred

1997 • 75 citations

Renal Capture and Oxidation of Cortisol in Man¹

1971 • 74 citations

Immunolocalization of NAD-dependent 11β-hydroxysteroid dehydrogenase in human kidney and colon

1996 • 72 citations

Apparent mineralocorticoid excess due to 11β‐hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation

1996 • 68 citations

Hypertension in a Four-Year-Old Child: Gas Chromatographic and Mass Spectrometric Evidence for Deficient Hepatic Metabolism of Steroids*

1980 • 65 citations

The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess.

1995 • 59 citations

Point mutations abolish 11β-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess

1996 • 57 citations

NEW FINDINGS IN APPARENT MINERALOCORTICOID EXCESS

1987 • 47 citations

Fatal, low renin hypertension associated with a disturbance of cortisol metabolism.

1983 • 39 citations

Mineralocorticoid hypertension and congenital deficiency of 11β‐hydroxysteroid dehydrogenase in a family with the syndrome of‘apparent’mineralocorticoid excess

1995 • 39 citations

A New Compound Heterozygous Mutation in the 11β-Hydroxysteroid Dehydrogenase Type 2 Gene in a Case of Apparent Mineralocorticoid Excess

1997 • 39 citations

Low-Renin, Low-Aldosterone Hypertension and Abnormal Cortisol Metabolism in a 19-Month-Old Child

1982 • 38 citations

APPARENT MINERALOCORTICOID EXCESS AND DEFICIENT 11β‐OXIDATION OF CORTISOL IN A YOUNG FEMALE

1984 • 35 citations

The human 11β-hydroxysteroid dehydrogenase type II enzyme: Comparisons with other species and localization to the distal nephron

1995 • 35 citations

Minealocorticoid receptors and 11 beta-steroid dehydrogenase activity in renal principal and intercalated cells

1994 • 31 citations

Spironolactone-reversible rickets associated with 11β-hydroxysteroid dehydrogenase deficiency syndrome

1986 • 27 citations

Juvenile Hypertension

1978 • 25 citations

Radioreceptor assay of plasma mineralocorticoid activity. Role of aldosterone, cortisol, and deoxycorticosterone in various mineralocorticoid-excess states.

1980 • 24 citations

CLINICAL RESPONSE TO METYRAPONE AS INDICATED BY MEASUREMENT OF MINERALOCORTICOIDS AND GLUCOCORTICOIDS IN NORMAL CHILDREN

1981 • 22 citations

Unusual Low Plasma Renin Hypertension in a Child

1976 • 20 citations

Radioimmunoassay of Plasma 17-Hydroxypregnenolone

1972 • 19 citations

11β-Hydroxysteroid dehydrogenase in renal collecting duct cells

1994 • 18 citations

11β-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial hypertension. Diagnosis and therapeutic approach in two young brothers

1996 • 15 citations

Adrenocortical Function, Electrolyte Metabolism, and Blood Pressure during Prolonged Adrenocorticotropin Infusion in Juvenile Hypertension*

1979 • 14 citations

Diagnosis and treatment of a child with the syndrome of apparent mineralocorticoid excess type 1

1996 • 8 citations

Deleted Work

1955 • 0 citations