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
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked.
Janot C et al.
Journal of Medical Genetics, 2025
Computing pathogenicity of mutations in human cytochrome P450 superfamily.
Mondal S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
From Severe Virilization to Precocious Puberty in a 46,XX Patient: Therapeutic Challenges in a Case of 11β-Hydroxylase Deficiency.
Hamaichat M et al.
Cureus, 2025
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
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency
İsakoca M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B et al.
Clinical Endocrinology, 2024
Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Tang S et al.
Endocrine, 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
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.
Hoseinzadeh M et al.
Laboratory Medicine, 2023
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.
Fylaktou I et al.
Hormones (athens, Greece), 2022
Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review.
Alsanea MN et al.
Cureus, 2022
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients.
Qin F et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2019
Consanguinity and Inbreeding in Health and Disease in North African Populations.
Romdhane L et al.
Annual Review of Genomics and Human Genetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
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
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 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
A high rate of novel CYP11B1 mutations in Saudi Arabia.
Alzahrani AS et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
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
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Bulsari K et al.
Endocrine, 2017
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X.
Matallana-Rhoades AM et al.
Colombia Medica (cali, Colombia), 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis.
Yurekli BS et al.
Hormones (athens, Greece), 2016
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
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
Long Y et al.
Endocrine Journal, 2016
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
Wang X et al.
Steroids, 2015
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Bhattacharjee A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
[Change in stature after pseudo-puberty early by 11ß hydroxylase deficiency in a girl of 7 years: report of a case and review of literature].
Latrech H et al.
The Pan African Medical Journal, 2015
Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency.
Dumic K et al.
International Journal of Endocrinology, 2014
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.
Zhang M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2013
Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
Nguyen HH et al.
Gene, 2012
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
Ben Charfeddine I et al.
General and Comparative Endocrinology, 2012
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
Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.
Wu C et al.
Fertility and Sterility, 2011
Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.
White PC
Advances in Experimental Medicine and Biology, 2011
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.
Dumic K et al.
European Journal of Pediatrics, 2010
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
Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.
Chabraoui L et al.
Hormone Research in Paediatrics, 2010
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
Dhir V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genetics of congenital adrenal hyperplasia.
Krone N et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2009
New insights into the structural characteristics and functional relevance of the human cytochrome P450 2D6 enzyme.
Wang B et al.
Drug Metabolism Reviews, 2009
Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Zhao LQ et al.
World Journal of Pediatrics : Wjp, 2008
A natural variant of the heme-binding signature (R441C) resulting in complete loss of function of CYP2D6.
Klein K et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2007
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