| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | John C. Achermann | Q37372720 |
| P2093 | author name string | Lin Lin | |
| P2860 | cites work | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans | Q22009986 |
| The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome | Q24301071 | ||
| An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita | Q24310501 | ||
| Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism | Q24310558 | ||
| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 | ||
| Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans | Q24323379 | ||
| Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. | Q24536132 | ||
| Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene | Q28139138 | ||
| Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene | Q28142907 | ||
| Mutant WD-repeat protein in triple-A syndrome | Q28142964 | ||
| "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency | Q28143870 | ||
| Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency | Q28145571 | ||
| Triple A syndrome: genotype–phenotype assessment | Q28204650 | ||
| Phenotypic spectrum of mutations in DAX-1 and SF-1 | Q28209883 | ||
| A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins | Q28210920 | ||
| PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency | Q28215854 | ||
| Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay | Q28221196 | ||
| Role of Ahch in gonadal development and gametogenesis | Q28506776 | ||
| Tpit determines alternate fates during pituitary cell differentiation | Q28508185 | ||
| Dax1 is required for testis determination | Q28510736 | ||
| Fertility and infertility: genetic contributions from the hypothalamic-pituitary-gonadal axis | Q33668735 | ||
| Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. | Q34049839 | ||
| Pituitary development: regulatory codes in mammalian organogenesis | Q34120136 | ||
| Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency | Q34144376 | ||
| Molecular basis of combined pituitary hormone deficiencies | Q34146692 | ||
| Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient | Q34169421 | ||
| Dehydroepiandrosterone replacement for patients with adrenal insufficiency | Q34253212 | ||
| Steroidogenic factor 1: a key determinant of endocrine development and function | Q34428822 | ||
| Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita | Q34465808 | ||
| Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency | Q34649087 | ||
| SF1 in the development of the adrenal gland and gonads. | Q35059464 | ||
| DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation | Q35140558 | ||
| Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency | Q35964450 | ||
| A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes | Q40866057 | ||
| Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype | Q40936201 | ||
| Dax1 regulates testis cord organization during gonadal differentiation | Q42435999 | ||
| Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation | Q43732452 | ||
| An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita | Q44273327 | ||
| New insights into the molecular basis of the triple A syndrome | Q44280130 | ||
| Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. | Q44357271 | ||
| Clinical and genetic characterization of families with triple A (Allgrove) syndrome | Q48447387 | ||
| Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia | Q49120156 | ||
| Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. | Q52121707 | ||
| Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency | Q56431842 | ||
| P433 | issue | 5 | |
| P304 | page(s) | 529-537 | |
| P577 | publication date | 2004-05-01 | |
| P1433 | published in | Clinical Endocrinology | Q15762781 |
| P1476 | title | Inherited adrenal hypoplasia: not just for kids! | |
| P478 | volume | 60 |
| Q36124695 | Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism |
| Q35781858 | Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience |
| Q50486355 | Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita. |
| Q46371331 | Primary adrenal insufficiency in children |
| Q24305963 | Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc |
| Q35768783 | Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. |
| Q37231819 | The adrenal cortex and sexual differentiation during early human development |
Search more.