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Items: 1 to 20 of 410

1.

X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.

Goto M, Katsumata N.

Horm Res. 2009;71(2):120-4. doi: 10.1159/000183901. Epub 2009 Jan 8.

PMID:
19129717
3.

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
4.

Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW.

Horm Res. 2005;63(4):200-5. Epub 2005 Apr 28.

PMID:
15860922
5.

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.

Clin Endocrinol (Oxf). 2000 Aug;53(2):249-55.

PMID:
10931108
6.

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.

Franzese A, Brunetti-Pierri N, Spagnuolo MI, Spadaro R, Giugliano M, Mukai T, Valerio G.

Am J Med Genet A. 2005 May 15;135(1):72-4. Review. Erratum in: Am J Med Genet A. 2005 Aug 15;137(1):115. Spagnuolo, Maria Immacolata [added]; Giugliano, Michela [added].

PMID:
15800903
7.

Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.

Laissue P, Copelli S, Bergada I, Bergada C, Barrio G, Karaboga S, Wurtz JM, Fellous M, Lalli E, Veitia RA.

Clin Endocrinol (Oxf). 2006 Nov;65(5):681-6.

PMID:
17054473
8.

A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.

Loke KY, Poh LK, Lee WW, Lai PS.

Horm Res. 2009;71(5):298-304. doi: 10.1159/000208804. Epub 2009 Apr 1.

PMID:
19339795
9.

A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

Balsamo A, Antelli A, Baldazzi L, Baronio F, Lazareva D, Cassio A, Cicognani A.

Am J Med Genet A. 2005 Jun 15;135(3):292-6.

PMID:
15884018
10.
11.

[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia].

Xu M, Wang YM, Xing XN, Zhou XH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):11-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.003. Chinese.

PMID:
19199243
12.

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
13.

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
14.

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
15.

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
16.

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
17.
18.

Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.

Lalli E, Ohe K, Hindelang C, Sassone-Corsi P.

Mol Cell Biol. 2000 Jul;20(13):4910-21.

19.

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.

20.

Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.

Lehmann SG, Wurtz JM, Renaud JP, Sassone-Corsi P, Lalli E.

Hum Mol Genet. 2003 May 1;12(9):1063-72.

PMID:
12700175

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