Associated Papers
Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.
Singhal A et al.
Jcem Case Reports, 2026
Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
Musa SA et al.
European Journal of Endocrinology, 2025
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
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.
Craver R et al.
Fetal and Pediatric Pathology, 2023
Transcriptomic signatures for human male infertility.
Hodžić A et al.
Frontiers in Molecular Biosciences, 2023
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Maharaj AV
Frontiers in Endocrinology, 2023
Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.
Scott CH et al.
International Journal of Molecular Sciences, 2022
Cyp11a2 Is Essential for Oocyte Development and Spermatogonial Stem Cell Differentiation in Zebrafish.
Wang Y et al.
Endocrinology, 2022
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Ali N et al.
Frontiers in Endocrinology, 2022
Adrenal hyperplasias in childhood: An update.
Pitsava G et al.
Frontiers in Endocrinology, 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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency.
Garcia C et al.
Case Reports in Endocrinology, 2021
Disorders of Sex Development of Adrenal Origin.
Finkielstain GP et al.
Frontiers in Endocrinology, 2021
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
Kallali W et al.
European Journal of Endocrinology, 2020
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F et al.
Clinical Endocrinology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".
Roucher-Boulez F et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Response to Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".
Kolli V et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.
Kolli V et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A et al.
Journal of the Endocrine Society, 2019
Comparison of three variant callers for human whole genome sequencing.
Supernat A et al.
Scientific Reports, 2018
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.
Ruiz-Babot G et al.
Cell Reports, 2018
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Goursaud C et al.
Frontiers in Endocrinology, 2018
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
Lara-Velazquez M et al.
Molecular Genetics & Genomic Medicine, 2017
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response.
Johnson MM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
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