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
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
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
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
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.
Yildiz M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Elfekih H et al.
The Pan African Medical Journal, 2020
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Baronio F et al.
International Journal of Molecular Sciences, 2019
Consanguinity and Inbreeding in Health and Disease in North African Populations.
Romdhane L et al.
Annual Review of Genomics and Human Genetics, 2019
Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
Valadares LP et al.
Endocrine, 2018
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
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 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
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
Xu L et al.
Steroids, 2015
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Laino L et al.
Endocrine Connections, 2014
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Menabò S et al.
European Journal of Human Genetics : Ejhg, 2014
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
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
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
Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.
White PC
Advances in Experimental Medicine and Biology, 2011
Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.
Kharrat M et al.
Clinical Genetics, 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
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
Tonetto-Fernandes V et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1.
Andrew M et al.
Clinical Endocrinology, 2007
Isolated ACTH deficiency presenting as severe hypercalcaemia.
Grossmann M et al.
Clinical Endocrinology, 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
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
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
Tonetto-Fernandes V et al.
The Journal of Clinical Endocrinology and Metabolism, 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
[Rare forms of female pseudohermaphroditism: when to investigate?].
Castro Md et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Mutations in CYP11B1 gene: phenotype-genotype correlations.
Zhu YS et al.
American Journal of Medical Genetics. Part A, 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
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.
Skinner CA et al.
The Journal of Clinical Endocrinology and Metabolism, 1996