Associated Papers
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Liang D et al.
Genome Medicine, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Claps A et al.
Scientific Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Longitudinal 12-Month Follow-Up of a Male Infant with CYP21A2 Compound Heterozygous Genotype in China: A Case Report.
Yin Y et al.
Ajp Reports, 2025
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?
Sarafoglou K et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.
Wang X et al.
International Journal of Neonatal Screening, 2025
Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.
Liang W et al.
Translational Pediatrics, 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
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 2025
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia.
Aldalaan H et al.
Frontiers in Endocrinology, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology.
Chen Y et al.
Risk Management and Healthcare Policy, 2025
Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.
Chong H et al.
Frontiers in Endocrinology, 2025
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.
Dong R et al.
Human Genomics, 2024
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y et al.
Orphanet Journal of Rare Diseases, 2024
A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene.
Tan J et al.
Heliyon, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center.
Fylaktou I et al.
Current Issues in Molecular Biology, 2024
Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia.
Ridder LO et al.
Clinical Endocrinology, 2024
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene.
Concolino P
Current Issues in Molecular Biology, 2024
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong.
Li YY et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
Saraf S et al.
Indian Journal of Pediatrics, 2024
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
Lao Q et al.
Molecular Genetics & Genomic Medicine, 2023
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Monteiro A et al.
Hormones (athens, Greece), 2023
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.
Tippabathani J et al.
International Journal of Neonatal Screening, 2023
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.
Tang P et al.
Frontiers in Endocrinology, 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
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y et al.
Clinical Chemistry, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children.
Tolba A et al.
Frontiers in Genetics, 2022
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Arriba M et al.
Frontiers in Endocrinology, 2022
Quantitative PCR from human genomic DNA: The determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation.
Doleschall M et al.
Plos One, 2022
The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.
Zhao Z et al.
Frontiers in Endocrinology, 2022
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
Stroek K et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
Navardauskaitė R et al.
Medicina (kaunas, Lithuania), 2021
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
Yoon JY et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.
Umaña-Calderón A et al.
Molecular Genetics and Metabolism Reports, 2021
Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia.
Nan MN et al.
Journal of Clinical Medicine, 2021
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Gangodkar P et al.
Endocrine, 2021
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Concolino P
Molecular Biology Reports, 2020
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L et al.
Clinical Biochemistry, 2019
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
A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.
Dayal D et al.
Indian Pediatrics, 2019
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R et al.
Hormone Research in Paediatrics, 2019