Associated Papers
Adrenal Hypoplasia: A Diagnostic and Clinical Challenge.
Geraldes Paulino S et al.
Cureus, 2025
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: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.
Lumaka A et al.
European Journal of Pediatrics, 2012
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
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Disorders of adrenal development.
Ferraz-de-Souza B et al.
Endocrine Development, 2008
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
Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.
Lehmann SG et al.
Human Molecular Genetics, 2003
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH et al.
Human Mutation, 2001
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
DAX-1, an 'antitestis' gene.
Goodfellow PN et al.
Cellular and Molecular Life Sciences : Cmls, 1999
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
Seminara SB et al.
Endocrine Reviews, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH et al.
American Journal of Human Genetics, 1998