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
Contrastive sequence signatures between the both sides of a recombination spot reveal an adaptation at PPARD locus from standing variation for pleiotropy since out-of-Africa dispersal.
Shou W et al.
Bmc Genomics, 2025
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
Dundar A et al.
Molecular Biology Reports, 2019
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Sproll P et al.
Molecular Genetics & Genomic Medicine, 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
Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.
Woo HI et al.
Drug Design, Development and Therapy, 2017
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Shammas C et al.
Hormones (athens, Greece), 2016
Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
Mooij CF et al.
Clinical Endocrinology, 2015
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
Polat S et al.
European Journal of Endocrinology, 2014
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
Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene.
Barr M et al.
Clinical Endocrinology, 2006
Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese.
Lee HH et al.
Clinical Endocrinology, 2005
Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.
Hampf M et al.
The Journal of Clinical Endocrinology and Metabolism, 2001