Similar articles for PMID: 9709929

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1

Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

Peter M, Viemann M, Partsch CJ, Sippell WG. Peter M, et al. J Clin Endocrinol Metab. 1998 Aug;83(8):2666-74. doi: 10.1210/jcem.83.8.5027. J Clin Endocrinol Metab. 1998. PMID: 9709929

2

The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.

Burris TP, Guo W, McCabe ER. Burris TP, et al. Recent Prog Horm Res. 1996;51:241-59; discussion 259-60. Recent Prog Horm Res. 1996. PMID: 8701082 Review.

3

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, et al. Muscatelli F, et al. Nature. 1994 Dec 15;372(6507):672-6. doi: 10.1038/372672a0. Nature. 1994. PMID: 7990958

4

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.

Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL. Achermann JC, et al. J Clin Endocrinol Metab. 2001 Jul;86(7):3171-5. doi: 10.1210/jcem.86.7.7660. J Clin Endocrinol Metab. 2001. PMID: 11443184 Free article.

5

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. 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.

6

Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.

Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K. Nakae J, et al. J Clin Endocrinol Metab. 1996 Oct;81(10):3680-5. doi: 10.1210/jcem.81.10.8855822. J Clin Endocrinol Metab. 1996. PMID: 8855822

7

Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.

Guo W, Mason JS, Stone CG Jr, Morgan SA, Madu SI, Baldini A, Lindsay EA, Biesecker LG, Copeland KC, Horlick MN, et al. Guo W, et al. JAMA. 1995 Jul 26;274(4):324-30. JAMA. 1995. PMID: 7609262

8

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings.

Calvari V, Alpigiani MG, Poggi E, Podesta B, Camerino G, Lorini R. Calvari V, et al. J Endocrinol Invest. 2006 Jan;29(1):41-7. doi: 10.1007/BF03349175. J Endocrinol Invest. 2006. PMID: 16553032

9

Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Nakae J, Abe S, Tajima T, Shinohara N, Murashita M, Igarashi Y, Kusuda S, Suzuki J, Fujieda K. Nakae J, et al. J Clin Endocrinol Metab. 1997 Nov;82(11):3835-41. doi: 10.1210/jcem.82.11.4342. J Clin Endocrinol Metab. 1997. PMID: 9360549

10

X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients.

Binder G, Wollmann H, Schwarze CP, Strom TM, Peter M, Ranke MB. Binder G, et al. Clin Endocrinol (Oxf). 2000 Aug;53(2):249-55. doi: 10.1046/j.1365-2265.2000.01038.x. Clin Endocrinol (Oxf). 2000. PMID: 10931108

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