Associated Papers
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
Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.
Liu S et al.
The Journal of International Medical Research, 2020
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F et al.
Clinical Endocrinology, 2020
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
A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up.
Raffin-Sanson ML et al.
European Journal of Endocrinology, 2013
Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.
Walker AP et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U et al.
Molecular and Cellular Endocrinology, 2011
Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.
Frapsauce C et al.
Human Reproduction (oxford, England), 2011
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
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