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
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
Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.
Li S et al.
Journal of Translational Medicine, 2025
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.
Concolino P et al.
Journal of the Endocrine Society, 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
A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene.
Tan J et al.
Heliyon, 2024
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.
Yuan D et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
Saraf S et al.
Indian Journal of Pediatrics, 2024
Navigating the Complex Landscape of CYP21A2 Variants.
Dubey S et al.
Indian Journal of Pediatrics, 2024
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
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 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
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Saho R et al.
Frontiers in Endocrinology, 2023
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y et al.
Clinical Chemistry, 2022
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Arriba M et al.
Frontiers in Endocrinology, 2022
High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency.
Kawasaki Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
Carvalho B et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 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
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Carrozza C et al.
Frontiers in Endocrinology, 2021
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Kocova M et al.
Frontiers in Endocrinology, 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
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Essawi M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.
Dayal D et al.
Indian Pediatrics, 2019
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Prado MJ et al.
Molecular Diagnosis & Therapy, 2017
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall M et al.
European Journal of Human Genetics : Ejhg, 2017
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Laino L et al.
Endocrine Connections, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B et al.
Gene, 2013
A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia.
Zhang L et al.
Case Reports in Endocrinology, 2013
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Mizukami H et al.
Forensic Science International, 2011
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Deneux C et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia.
Kumar KCP et al.
International Journal of Applied & Basic Medical Research, 0