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Hatano O, Takayama K, Imai T, Waterman MR, Takakusu A, <i>et al<\/i>. (1994) Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development.<i> Development<\/i> 120: 2787-2797.","DOI":"10.1242\/dev.120.10.2787"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Ingraham HA, Lala DS, Ikeda Y, Luo X, Shen WH, <i>et al.<\/i> (1994)The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis. <i>Genes Dev<\/i> 8: 2302-2312.","DOI":"10.1101\/gad.8.19.2302"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Hanley NA, Ball SG, Clement-Jones M, Hagan DM, Strachan T, <i>et al.<\/i> (1999) Expression of steroidogenic factor 1 and Wilms\u2019 tumour 1 during early human gonadal development and sex determination. <i>Mech Dev<\/i> 87: 175-180.","DOI":"10.1016\/S0925-4773(99)00123-9"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Philibert P, Polak M, Colmenares A, Lortat-Jacob S, Audran F, <i>et al.<\/i> (2011) Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new <i>NR5A1\/SF-1 <\/i>mutation transmitted by his unaffected father. <i>Fertil Steril <\/i>95: 1788.e5-1788.e9.","DOI":"10.1016\/j.fertnstert.2010.11.035"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, <i>et al.<\/i> (2012) Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the <i>NR5A1\/SF-1<\/i> gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. <i>Horm Res Paediatr<\/i> 78: 119-126.","DOI":"10.1159\/000338346"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Camats N, Pandey AV, Fern&aacute;ndez-Cancio M, Andaluz P, Janner M, <i>et al.<\/i> (2012) Ten novel mutations in the <i>NR5A1<\/i> gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. <i>J Clin Endocrinol Metab<\/i> 97: E1294-E1306.","DOI":"10.1210\/jc.2011-3169"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Mont&eacute; D, DeWitte F, Hum DW (1998) Regulation of the human P450scc gene by steroidogenic factor 1 is mediated by CBP\/p300. <i>J Biol Chem <\/i>273: 4585-4591.","DOI":"10.1074\/jbc.273.8.4585"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Li Y, Choi M, Cavey G, Daugherty J, Suino K, <i>et al.<\/i> (2005) Crystallographic identification and functional characterization of phospholipids as ligands for the orphan nuclear receptor steroidogenic factor-1. <i>Mol Cell<\/i> 17: 491-502.","DOI":"10.1016\/j.molcel.2005.02.002"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T (2007) Heterozygous missense mutations in steroidogenic factor 1 (SF1\/Ad4BP, <i>NR5A1<\/i>) are associated with 46,XY disorders of sex development with normal adrenal function. <i>J Clin Endocrinol Metab <\/i>92: 991-999.","DOI":"10.1210\/jc.2006-1672"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Biason-Lauber A, Schoenle EJ (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1\/SF-1) and adrenocortical insufficiency. <i>Am J Hum Genet<\/i> 67: 1563-1568.","DOI":"10.1086\/316893"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. 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