Associated Papers
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
Lildballe DL et al.
European Journal of Human Genetics : Ejhg, 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
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
Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
Schernthaner-Reiter MH et al.
European Journal of Endocrinology, 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
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
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Liu Y et al.
Orphanet Journal of Rare Diseases, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.
Tang P et al.
Frontiers in Endocrinology, 2023
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y et al.
Clinical Chemistry, 2022
Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.
Ganesamoorthy D et al.
Bmc Cancer, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ et al.
International Journal of Molecular Sciences, 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
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
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
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
Gao Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS et al.
Clinical Endocrinology, 2020
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
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 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
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
Liu J et al.
Molecular Medicine Reports, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Prado MJ et al.
Molecular Diagnosis & Therapy, 2017
Aberrant activation of the PI3K/mTOR pathway promotes resistance to sorafenib in AML.
Lindblad O et al.
Oncogene, 2016
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
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
Krone N et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
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