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53 results for “congenital adrenal hyperplasia”
Quantitative PCR from human genomic DNA: the determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation
<p>The dataset is related a study in which we aimed to simultaneously assess the performance of 7 quantitative polymerase chain reaction (qPCR) assays for the gene copy number (GCN) determination of the genetic elements of RCCX copy number variation (CNV). A single laboratory method validations of duplex qPCR assays with hydrolysis probes on <em>CYP21A1P</em> and <em>CYP21A2</em> genes, which are responsible for congenital adrenal hyperplasia, were performed using 46 human genomic DNA samples. We also performed the verifications on 5 qPCR assays for the genetic elements of RCCX CNV such as <em>C4A</em> gene, <em>C4B</em>, gene, RCCX CNV breakpoint, HERV-K(C4) CNV deletion and insertion alleles. The dataset contains the data of genomic DNA samples, the raw quantification cycle values of all qPCR experiments, the peak heights and dosage quotient of multiplex ligation-dependent probe amplification (MLPA) experiments, and the detailed GCN results based on qPCR and MLPA. All other analyses are available in our publication under the same title.</p>
Supplemental material for the paper "Genotype-phenotype correlation, clinical presentation, and feminizing surgery in children with congenital adrenal hyperplasia - a nationwide study"
<p>This dataset provides documentation for the translation between historical nomenclature for variants in the CYP21A2 gene to the Human genome variation society nomenclature. </p> <p>Furthermore, it provides data on all Danish CYP21A2 variants included in the study and the translation into genotype groups: Null, A, B, C, and D. </p>
Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT03257462. IPD Sharing: NO. Countries: 1. Publications: 1.
Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT00001521. IPD Sharing: NO. Countries: 1. Publications: 1.
Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT00519818. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 (Crinecerfont) in Pediatric Participants With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT04045145. IPD Sharing: NO. Countries: 1. Publications: 1.
Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1
ClinicalTrials.gov study NCT02574910. IPD Sharing: YES. Countries: 1. Publications: 1.
Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
ClinicalTrials.gov study NCT04806451. IPD Sharing: NO. Countries: 10. Publications: 1.
Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT04490915. IPD Sharing: NO. Countries: 18. Publications: 1.
Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT03718234. IPD Sharing: NO. Countries: 1. Publications: 1.
A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT02804178. IPD Sharing: NO. Countries: 1. Publications: 1.
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT03525886. IPD Sharing: NO. Countries: 1. Publications: 1.
Dexamethasone Treatment of Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT00621985. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT02716818. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT01859312. IPD Sharing: Not stated. Countries: 1. Publications: 5.
Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT03687242. IPD Sharing: NO. Countries: 1. Publications: 1.
Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT00694525. IPD Sharing: Not stated. Countries: 1. Publications: 5.
Gonadal Changes In Congenital Adrenal Hyperplasia Patients
ClinicalTrials.gov study NCT04903587. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT02096510. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Questionnaire Study to Assess the Outcomes of the Management of Congenital Adrenal Hyperplasia Individuals
ClinicalTrials.gov study NCT05228652. IPD Sharing: NO. Countries: 1. Publications: 11.
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OpenNeuro
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