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NELF is a nuclear protein involved in hypothalamic GnRH neuronal migrationRepressors of androgen and progesterone receptor actionSF-1 a key player in the development and differentiation of steroidogenic tissuesAdrenocortical zonation, renewal, and remodelingDevelopmental expression of DAX1 in the European sea bass, Dicentrarchus labrax: lack of evidence for sexual dimorphism during sex differentiationReview paper: origin and molecular pathology of adrenocortical neoplasmsThe crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification.Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutationEvidence of adrenal failure in aging Dax1-deficient mice.Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Disorders of sexual differentiation: I. Genetics and pathologyTranslational genetics for diagnosis of human disorders of sex developmentInherited adrenal hypoplasia: not just for kids!Development of adrenal cortex zonation.The adrenal.Coregulator interactions with the thyroid hormone receptor.Mechanisms of Disease: normal and abnormal gonadal development and sex determination in mammals.Conditional mutagenesis of Gata6 in SF1-positive cells causes gonadal-like differentiation in the adrenal cortex of mice.Primary adrenal insufficiency caused by a novel mutation in DAX1 geneFrom primordial germ cells to primordial follicles: a review and visual representation of early ovarian development in mice.Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and menGonadal development and tumor formation at the crossroads of male and female sex determination.E3 ubiquitin ligase RNF31 cooperates with DAX-1 in transcriptional repression of steroidogenesisDynamic responses of the adrenal steroidogenic regulatory network.A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.The diagnostic difficulties of complex glycerol kinase deficiency.Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.Targeted Disruption of YAP and TAZ Impairs the Maintenance of the Adrenal Cortex.Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Phenotypic spectrum of mutations in DAX-1 and SF-1
@ast
Phenotypic spectrum of mutations in DAX-1 and SF-1
@en
Phenotypic spectrum of mutations in DAX-1 and SF-1
@nl
type
label
Phenotypic spectrum of mutations in DAX-1 and SF-1
@ast
Phenotypic spectrum of mutations in DAX-1 and SF-1
@en
Phenotypic spectrum of mutations in DAX-1 and SF-1
@nl
prefLabel
Phenotypic spectrum of mutations in DAX-1 and SF-1
@ast
Phenotypic spectrum of mutations in DAX-1 and SF-1
@en
Phenotypic spectrum of mutations in DAX-1 and SF-1
@nl
P2093
P3181
P1476
Phenotypic spectrum of mutations in DAX-1 and SF-1
@en
P2093
J C Achermann
J L Jameson
P3181
P356
10.1016/S0303-7207(01)00619-0
P407
P577
2001-12-20T00:00:00Z