Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
Zhu F et al.
Frontiers in Endocrinology, 2022
Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
Fan DB et al.
Scientific Reports, 2021
Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
Vargas MCC et al.
Bmc Endocrine Disorders, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
Suthiworachai C et al.
Journal of the Endocrine Society, 2019
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Kyriakakis N et al.
Pituitary, 2017
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.
Rojek A et al.
International Journal of Endocrinology, 2016
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U et al.
Molecular and Cellular Endocrinology, 2011
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
Yang F et al.
European Journal of Pediatrics, 2009
Disorders of adrenal development.
Ferraz-de-Souza B et al.
Endocrine Development, 2008
An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.
Verrijn Stuart AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Sibling cases of Addison's disease caused by DAX-1 gene mutations.
Sekiguchi Y et al.
Internal Medicine (tokyo, Japan), 2007
Genetic disorders involving adrenal development.
Lin L et al.
Endocrine Development, 2007
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
Ozisik G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
Seminara SB et al.
Endocrine Reviews, 2002
Genetic causes of human reproductive disease.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
Mantovani G et al.
The Journal of Clinical Endocrinology and Metabolism, 2002