Associated Papers
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.
Janot C et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
Chan K et al.
Frontiers in Genetics, 2026
Precocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11β hydroxylase deficiency CAH.
Pande M et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.
Wagner AH et al.
Nature Communications, 2018
Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Bulsari K et al.
Hormones (athens, Greece), 2018
2017 NSAUA Abstracts.
Unknown Author
Canadian Urological Association Journal = Journal De L'association Des Urologues Du Canada, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Fertility in patients with congenital adrenal hyperplasia.
Reichman DE et al.
Fertility and Sterility, 2014
Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.
White PC
Advances in Experimental Medicine and Biology, 2011
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Zhao LQ et al.
World Journal of Pediatrics : Wjp, 2008
Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.
Cingöz S et al.
Journal of Endocrinological Investigation, 2007
Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
Krone N et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiency.
Storr HL et al.
Hormone Research, 2003
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
Stratakis CA et al.
Critical Reviews in Clinical Laboratory Sciences, 1999
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.
Merke DP et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Aldosterone secretion: a molecular perspective.
Boon WC et al.
Trends in Endocrinology and Metabolism: Tem, 1997
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
Curnow KM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0
[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)].
Tiul'pakov AN
Problemy Endokrinologii, 0