Associated Papers
Corticosteroid-binding Globulin Dysfunction Due to Homozygous SERPINA6 Lyon Variant in a Pediatric Patient.
Jiang MR et al.
Jcem Case Reports, 2025
Cortisol, Stress, and Disease-Bidirectional Associations; Role for Corticosteroid-Binding Globulin?
Lee JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin.
Meyer EJ et al.
Journal of the Endocrine Society, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3
Two different corticosteroid-binding globulin variants that lack cortisol-binding activity in a greek woman.
Hill LA et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
A role for corticosteroid-binding globulin variants in stress-related disorders.
Marathe CS et al.
Expert Review of Endocrinology & Metabolism, 2012
High frequency of SERPINA6 polymorphisms that reduce plasma corticosteroid-binding globulin activity in Chinese subjects.
Lin HY et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
CBG Santiago: a novel CBG mutation.
Torpy DJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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