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Results: 1 to 20 of 158

1.
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
16553032
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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. Review.

PMID:
8701082
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.

Ozer EA, Kaya A, Yildirimer M, Guler O, Can S, Aydinlioglu H.

Eur J Pediatr. 2009 Mar;168(3):367-9. doi: 10.1007/s00431-008-0778-y. Epub 2008 Jul 5.

PMID:
18604556
[PubMed - indexed for MEDLINE]
9.

DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Kinoshita E, Yoshimoto M, Motomura K, Kawaguchi T, Mori R, Baba T, Nishijo K, Hasegawa T, Momoi T, Yorihuji T.

Horm Res. 1997;48(1):29-34.

PMID:
9195207
[PubMed - indexed for MEDLINE]
10.

A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Wang J, Killinger DW, Hegele RA.

J Investig Med. 1999 May;47(5):232-5.

PMID:
10361383
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.
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.

PMID:
8636263
[PubMed - indexed for MEDLINE]
14.

DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.

Ito M, Yu R, Jameson JL.

Mol Cell Biol. 1997 Mar;17(3):1476-83.

PMID:
9032275
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

[From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene].

Verrijn Stuart AA, de Vroede MA, Giltay JC.

Ned Tijdschr Geneeskd. 2005 May 21;149(21):1156-8. Review. Dutch.

PMID:
15940919
[PubMed - indexed for MEDLINE]
16.

A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.

Mericq V, Ciaccio M, Marino R, Lamoglia JJ, Viterbo G, Rivarola MA, Belgorosky A.

J Pediatr Endocrinol Metab. 2007 Sep;20(9):1039-43.

PMID:
18038713
[PubMed - indexed for MEDLINE]
17.

X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.

Lehmann SG, Lalli E, Sassone-Corsi P.

Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8225-30. Epub 2002 May 28.

PMID:
12034880
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.

Yang F, Hanaki K, Kinoshita T, Kawashima Y, Nagaishi J, Kanzaki S.

Eur J Pediatr. 2009 Mar;168(3):329-31. doi: 10.1007/s00431-008-0779-x. Epub 2008 Jul 8.

PMID:
18607630
[PubMed - indexed for MEDLINE]
19.

Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.

Abe S, Nakae J, Yasoshima K, Tajima T, Shinohara N, Murashita M, Satoh K, Koike A, Takahashi Y, Fujieda K.

Am J Med Genet. 1999 May 21;84(2):87-9.

PMID:
10323730
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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