Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 2023
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Zwaveling-Soonawala N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Kyriakakis N et al.
Pituitary, 2017
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
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U et al.
Molecular and Cellular Endocrinology, 2011
Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
Okuhara K et al.
Endocrine Journal, 2008
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
[Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].
Okuhara K
[hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science, 2004
A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
Rojek A et al.
Hormones (athens, Greece), 0
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