Associated Papers
Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.
Nowak Z et al.
Children (basel, Switzerland), 2024
A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.
Alhamoudi KM et al.
Heliyon, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.
Redouane S et al.
Computational Biology and Chemistry, 2023
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.
Berruien NNA et al.
Gene, 2020
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F et al.
Clinical Endocrinology, 2020
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.
Buonocore F et al.
Frontiers in Pediatrics, 2020
Normal male external genitalia do not rule out CYP11A1 deficiency.
Sarathi V et al.
Bmj Case Reports, 2019
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A et al.
Journal of the Endocrine Society, 2019
News about the genetics of congenital primary adrenal insufficiency.
Roucher-Boulez F et al.
Annales D'endocrinologie, 2018
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.
Hannah-Shmouni F et al.
Reviews in Endocrine & Metabolic Disorders, 2018
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Goursaud C et al.
Frontiers in Endocrinology, 2018
Disorders in the initial steps of steroid hormone synthesis.
Miller WL
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
Tee MK et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
Parajes S et al.
European Journal of Endocrinology, 2012
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.
Sheya A et al.
Indian Journal of Endocrinology and Metabolism, 0