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4. 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 Recent Prog Horm Res; 1996; 51():241-59; discussion 259-60. PubMed ID: 8701082 [TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 9709929 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 10022408 [TBL] [Abstract][Full Text] [Related]
8. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. Seminara SB; Achermann JC; Genel M; Jameson JL; Crowley WF J Clin Endocrinol Metab; 1999 Dec; 84(12):4501-9. PubMed ID: 10599709 [TBL] [Abstract][Full Text] [Related]
9. 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; 76(1):62-6. PubMed ID: 9508067 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 8855822 [TBL] [Abstract][Full Text] [Related]
11. 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 J Endocrinol Invest; 2006 Jan; 29(1):41-7. PubMed ID: 16553032 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 9360549 [TBL] [Abstract][Full Text] [Related]
13. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Yanase T; Takayanagi R; Oba K; Nishi Y; Ohe K; Nawata H J Clin Endocrinol Metab; 1996 Feb; 81(2):530-5. PubMed ID: 8636263 [TBL] [Abstract][Full Text] [Related]