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Items: 1 to 20 of 129

1.

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER.

Am J Hum Genet. 1998 Apr;62(4):855-64.

2.

Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Hamaguchi K, Arikawa M, Yasunaga S, Kakuma T, Fukagawa K, Yanase T, Nawata H, Sakata T.

Am J Med Genet. 1998 Feb 26;76(1):62-6.

PMID:
9508067
3.

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Bassett JH, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV.

Clin Endocrinol (Oxf). 1999 Jan;50(1):69-75.

PMID:
10341858
4.

Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, Pagon RA, McCabe ER.

J Clin Endocrinol Metab. 1996 Jul;81(7):2481-6.

PMID:
8675564
5.

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.

JAMA. 1995 Jul 26;274(4):324-30.

PMID:
7609262
6.

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.

J Clin Endocrinol Metab. 2001 Jul;86(7):3171-5.

PMID:
11443184
7.
8.

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.

J Clin Endocrinol Metab. 1997 Nov;82(11):3835-41.

PMID:
9360549
9.

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.

J Clin Endocrinol Metab. 2003 Jan;88(1):417-23.

PMID:
12519885
10.

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.

J Clin Endocrinol Metab. 2002 Jan;87(1):44-8.

PMID:
11788621
11.

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.

J Clin Endocrinol Metab. 1998 Aug;83(8):2666-74.

PMID:
9709929
12.

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.

J Clin Endocrinol Metab. 1999 Feb;84(2):504-11.

PMID:
10022408
13.

A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita.

Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, Sassone-Corsi P.

Mol Endocrinol. 1997 Dec;11(13):1950-60.

PMID:
9415399
14.

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.

J Clin Endocrinol Metab. 1996 Oct;81(10):3680-5.

PMID:
8855822
15.

Phenotypic spectrum of mutations in DAX-1 and SF-1.

Achermann JC, Meeks JJ, Jameson JL.

Mol Cell Endocrinol. 2001 Dec 20;185(1-2):17-25. Review.

PMID:
11738790
16.
17.
18.

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK.

Hum Mutat. 2001 Dec;18(6):547.

PMID:
11748852
19.

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.

Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF Jr, Layman LC, Jameson JL.

J Clin Endocrinol Metab. 1999 Dec;84(12):4497-500.

PMID:
10599708
20.

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.

Nature. 1994 Dec 15;372(6507):672-6.

PMID:
7990958

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