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
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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.
Fylaktou I et al.
Hormones (athens, Greece), 2022
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review.
Wang D et al.
Journal of Ovarian Research, 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
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
Kandemir N et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
Nguyen HH et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2016
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
Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.
Abbaszadegan MR et al.
Endocrine, 2013
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
Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Motaghedi R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.
Chabre O et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
Cerame BI et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
Stratakis CA et al.
Critical Reviews in Clinical Laboratory Sciences, 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
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
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Joehrer K et al.
Human Molecular Genetics, 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