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
Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.
Jia X et al.
International Journal of Neonatal Screening, 2025
Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.
Liu X et al.
Bmc 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
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y et al.
Orphanet Journal of Rare Diseases, 2024
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS.
Yin X et al.
European Journal of Medical Genetics, 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
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
Clinical application value of expanded carrier screening in the population of childbearing age.
Fang Y et al.
European Journal of Medical Research, 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
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report.
Cheng T et al.
Bmc Endocrine Disorders, 2022
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
Yoon JY et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
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
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
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Xu J et al.
Clinical Biochemistry, 2019
[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
Xia Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
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
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
Yoo Y et al.
Annals of Pediatric Endocrinology & Metabolism, 2013