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
CAH due to 11β-hydroxylase deficiency - same same but different!
du Toit T et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Spontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review.
Machineni P et al.
Cureus, 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
Long-term Complications and Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia
Kılınç Uğurlu A 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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
Aycan Z et al.
European Journal of Medical Genetics, 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 Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.
Koprulu O et al.
Sisli Etfal Hastanesi Tip Bulteni, 2022
[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child].
Raygorodskaya NY et al.
Problemy Endokrinologii, 2021
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
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.
Zacharieva S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2019
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F et al.
The Journal of Steroid Biochemistry and Molecular Biology, 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
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Khattab A et al.
Proceedings of the National Academy of Sciences of the United States of America, 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: functional consequences of four CYP11B1 mutations.
Menabò S et al.
European Journal of Human Genetics : Ejhg, 2014
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
Polat S et al.
European Journal of Endocrinology, 2014
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
A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.
Riedl S et al.
Hormone Research, 2008
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 due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
Krone N et al.
The Journal of Clinical Endocrinology and Metabolism, 2005