Associated Papers
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Kyriakakis N et al.
Pituitary, 2017
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Shima H et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder.
Calliari LE et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2013
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
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.
Brown P et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK 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
Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita.
Takahashi I et al.
Clinical Endocrinology, 2000
DAX-1, an 'antitestis' gene.
Goodfellow PN et al.
Cellular and Molecular Life Sciences : Cmls, 1999
A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 1999
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Bassett JH et al.
Clinical Endocrinology, 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
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
Takahashi T et al.
The Journal of Pediatrics, 1997