Associated Papers
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
Disorders of aldosterone synthesis, secretion, and cellular function.
Root AW
Current Opinion in Pediatrics, 2014
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
Kondo E et al.
Endocrine Journal, 2013
[Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency].
Kalinchenko NY et al.
Problemy Endokrinologii, 2009
Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation.
Prosser DE et al.
Biophysical Journal, 2006
A particular phenotype in a girl with aldosterone synthase deficiency.
Williams TA et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.
Kuribayashi I et al.
Hormone Research, 2003
Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
Kayes-Wandover KM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M et al.
European Journal of Endocrinology, 2001
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
Peter M et al.
European Journal of Pediatrics, 1998
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
Peter M et al.
Hormone Research, 1998
Aldosterone secretion: a molecular perspective.
Boon WC et al.
Trends in Endocrinology and Metabolism: Tem, 1997
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.
Peter M et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
Nomoto S et al.
Biochemical and Biophysical Research Communications, 1997
Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.
Fardella CE et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.
Zhang G et al.
American Journal of Human Genetics, 1995
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.
Geley S et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)].
Tiul'pakov AN
Problemy Endokrinologii, 0