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Results: 18

1.

Neurologic complications of disorders of the adrenal glands.

Bertorini TE, Perez A.

Handb Clin Neurol. 2014;120:749-71. doi: 10.1016/B978-0-7020-4087-0.00050-4. Review.

PMID:
24365350
[PubMed - indexed for MEDLINE]
2.

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).

Wikiera B, Jakubiak A, Zimowski J, NoczyƄska A, Smigiel R.

Pediatr Endocrinol Diabetes Metab. 2012;18(4):153-7. Review.

PMID:
23739620
[PubMed - indexed for MEDLINE]
Free Article
3.

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

El-Khairi R, Martinez-Aguayo A, Ferraz-de-Souza B, Lin L, Achermann JC.

Endocr Dev. 2011;20:38-46. doi: 10.1159/000321213. Epub 2010 Dec 16. Review.

PMID:
21164257
[PubMed - indexed for MEDLINE]
4.

[Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

Folligan K, Roume J, Razavi F, Sepaniak S, Bouvier R, Morel Y, Trouillas J.

Morphologie. 2011 Mar;95(308):26-33. doi: 10.1016/j.morpho.2010.07.003. Review. French.

PMID:
20801702
[PubMed - indexed for MEDLINE]
5.

[Acute adrenal insufficiency in the newborn].

Limal JM, Bouhours-Nouet N, Rouleau S, Gatelais F, Coutant R.

Arch Pediatr. 2006 Oct;13(10):1358-63. Epub 2006 Sep 7. Review. French.

PMID:
16962294
[PubMed - indexed for MEDLINE]
6.

[X-linked congenital adrenal hypoplasia].

Kaji M.

Nihon Rinsho. 2006 May 28;Suppl 1:556-8. Review. Japanese. No abstract available.

PMID:
16776214
[PubMed - indexed for MEDLINE]
7.

[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]
8.

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
[PubMed - indexed for MEDLINE]
9.

DAX1 and its network partners: exploring complexity in development.

Clipsham R, McCabe ER.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. Review.

PMID:
14567960
[PubMed - indexed for MEDLINE]
10.

SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis.

Beuschlein F, Keegan CE, Bavers DL, Mutch C, Hutz JE, Shah S, Ulrich-Lai YM, Engeland WC, Jeffs B, Jameson JL, Hammer GD.

Endocr Res. 2002 Nov;28(4):597-607. Review.

PMID:
12530669
[PubMed - indexed for MEDLINE]
11.

[DAX-1 abnormality].

Kinoshita E.

Nihon Rinsho. 2002 Feb;60(2):391-6. Review. Japanese.

PMID:
11857932
[PubMed - indexed for MEDLINE]
12.

Congenital adrenal hypoplasia and DAX-1 gene mutations.

Tabarin A.

Ann Endocrinol (Paris). 2001 Apr;62(2):202-6. Review.

PMID:
11353895
[PubMed - indexed for MEDLINE]
13.

Advances in the molecular genetics of hypogonadotropic hypogonadism.

Achermann JC, Jameson JL.

J Pediatr Endocrinol Metab. 2001 Jan;14(1):3-15. Review.

PMID:
11220702
[PubMed - indexed for MEDLINE]
14.

Genetics of hypogonadotropic hypogonadism.

Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF Jr.

J Endocrinol Invest. 2000 Oct;23(9):560-5. Review.

PMID:
11079449
[PubMed - indexed for MEDLINE]
15.

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]
16.

[Endocrinology 1994-1995].

Schreiber V.

Cas Lek Cesk. 1995 Sep 20;134(18):575-6. Review. Czech.

PMID:
7489571
[PubMed - indexed for MEDLINE]
17.

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.

Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR.

Arch Ophthalmol. 1989 Aug;107(8):1170-9. Review.

PMID:
2667510
[PubMed - indexed for MEDLINE]
18.

Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.

Burke BA, Wick MR, King R, Thompson T, Hansen J, Darrae BT, Francke U, Seltzer WK, McCabe ER, Scheithauer BW.

Am J Med Genet. 1988 Sep;31(1):75-97. Review.

PMID:
2906226
[PubMed - indexed for MEDLINE]

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