Associated Papers
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL et al.
World Journal of Pediatrics : Wjp, 2024
Identification and functional characterization of a large deletion of the CYP11B1 gene causing an 11β-Hydroxylase deficiency in a Chinese pedigree.
Xu C et al.
Hormone Research in Paediatrics, 2012
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
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
Aldosterone secretion: a molecular perspective.
Boon WC et al.
Trends in Endocrinology and Metabolism: Tem, 1997
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Geley S et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0