Associated Papers
Sixteen Years of Clinical Data Including Genetic Analysis to Explain Delayed Puberty in a Chinese Boy with 21-Hydroxylase Deficiency: A Case Report.
Wang X et al.
Hormone Research in Paediatrics, 2026
A Decade-Long Diagnostic Challenge: A Case of Nonclassical 21-Hydroxylase Deficiency Mistaken for Polycystic Ovary Syndrome.
Kondo E et al.
The Journal of Obstetrics and Gynaecology Research, 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
Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.
Hua R et al.
Human Genomics, 2025
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.
Olthof A et al.
Archives of Disease in Childhood, 2025
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Nguyen KN et al.
Annals of Pediatric Endocrinology & Metabolism, 2025
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.
Yang Y et al.
Orphanet Journal of Rare Diseases, 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
Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.
Thakare S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
[Prenatal genetic analysis of a fetus with 21-hydroxylase deficiency due to compound heterozygous variants of CYP21A2 gene].
Zhang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.
Ng HY et al.
Hgg Advances, 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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H 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
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.
Concolino P et al.
Journal of the Endocrine Society, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 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-term Complications and Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia
Kılınç Uğurlu A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia.
Aldalaan H et al.
Frontiers in Endocrinology, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 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
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
Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report.
Yan Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2024
Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge.
Kundavaram R et al.
Cureus, 2024
Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
Karlekar M et al.
Indian Pediatrics, 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
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.
Velasco HM et al.
European Journal of Human Genetics : Ejhg, 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia.
Ridder LO et al.
Clinical Endocrinology, 2024
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS.
Yin X et al.
European Journal of Medical Genetics, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong.
Li YY et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 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
Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
Saraf S et al.
Indian Journal of Pediatrics, 2024