Achermann JC - Search Results

1

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.

Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A, Weiss J, Beck-Peccoz P, Jameson JL. Ozisik G, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2003 Jan;88(1):417-23. doi: 10.1210/jc.2002-021034. J Clin Endocrinol Metab. 2003. PMID: 12519885 Free article.

2

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.

Mantovani G, Ozisik G, Achermann JC, Romoli R, Borretta G, Persani L, Spada A, Jameson JL, Beck-Peccoz P. Mantovani G, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2002 Jan;87(1):44-8. doi: 10.1210/jcem.87.1.8163. J Clin Endocrinol Metab. 2002. PMID: 11788621

3

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL. Achermann JC, et al. J Clin Endocrinol Metab. 2002 Apr;87(4):1829-33. doi: 10.1210/jcem.87.4.8376. J Clin Endocrinol Metab. 2002. PMID: 11932325

4

Genetic causes of human reproductive disease.

Achermann JC, Ozisik G, Meeks JJ, Jameson JL. Achermann JC, et al. J Clin Endocrinol Metab. 2002 Jun;87(6):2447-54. doi: 10.1210/jcem.87.6.8622. J Clin Endocrinol Metab. 2002. PMID: 12050198 Free article. Review. No abstract available.

5

The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.

Ozisik G, Achermann JC, Jameson JL. Ozisik G, et al. Among authors: achermann jc. Mol Genet Metab. 2002 Jun;76(2):85-91. doi: 10.1016/s1096-7192(02)00032-x. Mol Genet Metab. 2002. PMID: 12083805 Review.

6

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, Pralong FP. Salvi R, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2002 Sep;87(9):4094-100. doi: 10.1210/jc.2001-011930. J Clin Endocrinol Metab. 2002. PMID: 12213854 Free article.

7

SF1 in the development of the adrenal gland and gonads.

Ozisik G, Achermann JC, Meeks JJ, Jameson JL. Ozisik G, et al. Among authors: achermann jc. Horm Res. 2003;59 Suppl 1:94-8. doi: 10.1159/000067831. Horm Res. 2003. PMID: 12566727 Review.

8

Battle of the sexes: new insights into genetic pathways of gonadal development.

Jameson JL, Achermann JC, Ozisik G, Meeks JJ. Jameson JL, et al. Among authors: achermann jc. Trans Am Clin Climatol Assoc. 2003;114:51-63; discussion 64-5. Trans Am Clin Climatol Assoc. 2003. PMID: 12813911 Free PMC article. Review.

9

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC. Lin L, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2006 Aug;91(8):3048-54. doi: 10.1210/jc.2006-0603. Epub 2006 May 9. J Clin Endocrinol Metab. 2006. PMID: 16684822 Free PMC article.

10

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.

Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL. Reutens AT, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 1999 Feb;84(2):504-11. doi: 10.1210/jcem.84.2.5468. J Clin Endocrinol Metab. 1999. PMID: 10022408 Free article.

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