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Items: 1 to 20 of 32

1.

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB.

Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Review.

2.

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

Rojek A, Krawczynski MR, Jamsheer A, Sowinska-Seidler A, Iwaniszewska B, Malunowicz E, Niedziela M.

Int J Endocrinol. 2016;2016:5178953. doi: 10.1155/2016/5178953. Epub 2016 Aug 30.

3.

Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita.

Chung ST, Chi CH, Haymond MW, Jeha GS.

Jacobs J Pediatr. 2015 Nov;1(1). pii: 003. Epub 2015 May 4.

4.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC.

J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2.

5.

Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism.

Loureiro M, Reis F, Robalo B, Pereira C, Sampaio L.

Pediatr Rep. 2015 Sep 28;7(3):5936. doi: 10.4081/pr.2015.5936. eCollection 2015 Sep 28.

6.

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.

Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC.

Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):607-19. doi: 10.1016/j.beem.2015.07.004. Epub 2015 Jul 14. Review.

7.

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.

Brandt T, Blanchard L, Desai K, Nimkarn S, Cohen N, Edelmann L, Mehta L.

Eur J Med Genet. 2013 Nov;56(11):619-23. doi: 10.1016/j.ejmg.2013.09.006. Epub 2013 Sep 20.

8.

Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.

Evliyaoğlu O, Dokurel İ, Bucak F, Özcabı B, Ercan Ö, Ceylaner S.

J Clin Res Pediatr Endocrinol. 2013;5(1):55-7. doi: 10.4274/Jcrpe.895.

9.

Steroidogenic factor-1 and human disease.

El-Khairi R, Achermann JC.

Semin Reprod Med. 2012 Oct;30(5):374-81. doi: 10.1055/s-0032-1324720. Epub 2012 Oct 8. Review.

10.

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.

Galeotti C, Lahlou Z, Goullon D, Sarda-Thibault H, Cahen-Varsaux J, Bignon-Topalovic J, Bashamboo A, McElreavey K, Brauner R.

PLoS One. 2012;7(6):e39828. doi: 10.1371/journal.pone.0039828. Epub 2012 Jun 27.

11.

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

Tantawy S, Lin L, Akkurt I, Borck G, Klingmüller D, Hauffa BP, Krude H, Biebermann H, Achermann JC, Köhler B.

Eur J Endocrinol. 2012 Jul;167(1):125-30. doi: 10.1530/EJE-11-0944. Epub 2012 Apr 3.

12.

Adrenocortical stem and progenitor cells: implications for adrenocortical carcinoma.

Simon DP, Hammer GD.

Mol Cell Endocrinol. 2012 Mar 31;351(1):2-11. doi: 10.1016/j.mce.2011.12.006. Epub 2012 Jan 13. Review.

13.

Evidence of adrenal failure in aging Dax1-deficient mice.

Scheys JO, Heaton JH, Hammer GD.

Endocrinology. 2011 Sep;152(9):3430-9. doi: 10.1210/en.2010-0986. Epub 2011 Jul 5.

14.

Hypogonadotropic hypogonadism in subjects with DAX1 mutations.

Jadhav U, Harris RM, Jameson JL.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):65-73. doi: 10.1016/j.mce.2011.04.017. Epub 2011 Jun 13. Review.

15.

Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.

Ferraz-de-Souza B, Hudson-Davies RE, Lin L, Parnaik R, Hubank M, Dattani MT, Achermann JC.

J Clin Endocrinol Metab. 2011 Apr;96(4):E663-8. doi: 10.1210/jc.2010-2021. Epub 2011 Jan 14.

16.

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.

Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S.

Hum Reprod. 2011 Mar;26(3):724-8. doi: 10.1093/humrep/deq372. Epub 2011 Jan 11.

17.

Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.

Sahakitrungruang T, Tee MK, Blackett PR, Miller WL.

J Clin Endocrinol Metab. 2011 Mar;96(3):792-8. doi: 10.1210/jc.2010-1828. Epub 2010 Dec 15.

18.

Adrenocortical stem and progenitor cells: unifying model of two proposed origins.

Wood MA, Hammer GD.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):206-12. doi: 10.1016/j.mce.2010.11.012. Epub 2010 Nov 20. Review.

19.

Steroidogenic factor-1 (SF-1, NR5A1) and human disease.

Ferraz-de-Souza B, Lin L, Achermann JC.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):198-205. doi: 10.1016/j.mce.2010.11.006. Epub 2010 Nov 13. Review.

20.

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.

Miller WL, Auchus RJ.

Endocr Rev. 2011 Feb;32(1):81-151. doi: 10.1210/er.2010-0013. Epub 2010 Nov 4. Review. Erratum in: Endocr Rev. 2011 Aug;32(4):579.

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