Associated Papers
Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.
Dubey S et al.
Indian Journal of Pediatrics, 2026
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
Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.
Jia X et al.
International Journal of Neonatal Screening, 2025
Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.
Zhang X et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
Odabaşı Güneş S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.
Zeng J et al.
Frontiers in Pediatrics, 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
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
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Zhang X et al.
Journal of Endocrinological Investigation, 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
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Concolino P et al.
Molecular Diagnosis & Therapy, 2023
Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
Li H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
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
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
Kim JH et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
Tantirukdham N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.
Kurzyńska A et al.
Hormones (athens, Greece), 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
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
Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.
Maimaitiming J et al.
Pharmacogenomics and Personalized Medicine, 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
The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
Dundar A et al.
Molecular Biology Reports, 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
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Liu SY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
Wang R et al.
Steroids, 2016
CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
Hong G et al.
Annals of Laboratory Medicine, 2015
Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.
Chu SY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2002
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
Kopacek C et al.
Jornal De Pediatria, 0