Associated Papers
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.
Olthof A et al.
Archives of Disease in Childhood, 2025
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Nguyen KN et al.
Annals of Pediatric Endocrinology & Metabolism, 2025
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.
Yang Y et al.
Orphanet Journal of Rare Diseases, 2025
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.
Concolino P et al.
Journal of the Endocrine Society, 2025
Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
Suwanlikit Y et al.
Bmc Medical Genomics, 2025
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Adachi E et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD.
Lan T et al.
Frontiers in Genetics, 2024
Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.
Tan IL et al.
Cell Reports, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center.
Faradz SMH et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS et al.
Clinical Endocrinology, 2020
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2019
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Friães A et al.
Molecular Genetics and Metabolism, 2006
[deficiency of growth hormone in children. Re-evaluation after therapeutic completion].
Martins T et al.
Acta Medica Portuguesa, 0
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
Vieira A et al.
Acta Medica Portuguesa, 0
Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.
Ravichandran L et al.
Indian Journal of Endocrinology and Metabolism, 0