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
Pubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience.
Abseyi SN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2026
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
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 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
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Rare genetic variants and severe COVID-19 in previously healthy admixed Latin American adults.
Rocha GD et al.
Scientific 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
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.
David J et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2025
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Graves LE et al.
Frontiers in Endocrinology, 2025
Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
Karlekar M et al.
Indian Pediatrics, 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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.
Kara L et al.
European Journal of Medical Genetics, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency.
Marzola E et al.
Dermatology Reports, 2024
Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia.
Navardauskaite R et al.
Frontiers in Pediatrics, 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
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
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
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
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
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis P et al.
Frontiers in Endocrinology, 2023
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
Paragliola RM et al.
Journal of Clinical Medicine, 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
Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
Silva RS et al.
Archives of Endocrinology and Metabolism, 2022
Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia.
Navardauskaite R et al.
Medicina (kaunas, Lithuania), 2022
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Arriba M et al.
Frontiers in Endocrinology, 2022
Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.
Koprulu O et al.
Sisli Etfal Hastanesi Tip Bulteni, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 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
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ et al.
International Journal of Molecular Sciences, 2021
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase.
Arriba M et al.
Clinical Genetics, 2021
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
Navardauskaitė R et al.
Medicina (kaunas, Lithuania), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Concolino P et al.
Molecular Diagnosis & Therapy, 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