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Items: 1 to 20 of 35

1.

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.

Nimkarn S, Cerame BI, Wei JQ, Dumic M, Zunec R, Brkljacic L, Skrabić V, New MI, Wilson RC.

J Clin Endocrinol Metab. 1999 Jan;84(1):378-81.

PMID:
9920112
2.

Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Zhao LQ, Han S, Tian HM.

World J Pediatr. 2008 May;4(2):85-90. doi: 10.1007/s12519-008-0016-8. Review.

PMID:
18661760
3.

Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.

Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI.

J Steroid Biochem Mol Biol. 1999 Apr-Jun;69(1-6):19-29. Review.

PMID:
10418977
4.

Genetics of congenital adrenal hyperplasia.

Krone N, Arlt W.

Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):181-92. doi: 10.1016/j.beem.2008.10.014. Review.

PMID:
19500762
5.

Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.

Peter M.

Semin Reprod Med. 2002 Aug;20(3):249-54. Review.

PMID:
12428205
6.
7.

CYP21 mutations and congenital adrenal hyperplasia.

Lee HH.

Clin Genet. 2001 May;59(5):293-301. Review.

PMID:
11359457
8.

Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

Al-Agha AE, Ocheltree AH, Al-Tamimi MD.

Turk J Pediatr. 2012 Jul-Aug;54(4):323-32. Review.

PMID:
23692712
9.

Inborn errors of adrenal steroidogenesis.

New MI.

Mol Cell Endocrinol. 2003 Dec 15;211(1-2):75-83. Review.

PMID:
14656479
10.

Mutations in steroid 21-hydroxylase (CYP21).

White PC, Tusie-Luna MT, New MI, Speiser PW.

Hum Mutat. 1994;3(4):373-8. Review.

PMID:
8081391
11.
12.

Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.

Nimkarn S, New MI.

Trends Endocrinol Metab. 2008 Apr;19(3):96-9. doi: 10.1016/j.tem.2008.01.002. Review.

PMID:
18294861
13.

Congenital adrenal hyperplasia: phenotype and genotype.

Hughes I.

J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1329-40. Review.

PMID:
12510987
14.

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene].

Claahsen-van der Grinten HL, Hoefsloot LH.

Ned Tijdschr Geneeskd. 2007 May 26;151(21):1174-7. Review. Dutch.

PMID:
17557757
15.

Diversity of the CYP21P-like gene in CYP21 deficiency.

Lee HH.

DNA Cell Biol. 2005 Jan;24(1):1-9. Review.

PMID:
15684714
16.

21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.

Tonetto-Fernandes V, Lemos-Marini SH, De Mello MP, Ribeiro-Neto LM, Kater CE.

J Pediatr Endocrinol Metab. 2008 May;21(5):487-94. Review.

PMID:
18655532
17.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.

White PC, Bachega TA.

Semin Reprod Med. 2012 Oct;30(5):400-9. doi: 10.1055/s-0032-1324724. Review.

PMID:
23044877
18.

The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.

Lee HH.

J Hum Genet. 2004;49(2):65-72. Review.

PMID:
14730433
19.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC, Speiser PW.

Endocr Rev. 2000 Jun;21(3):245-91. Review. Erratum in: Endocr Rev 2000 Oct;21(5):550.

PMID:
10857554
20.

21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease.

Forest MG, Tardy V, Nicolino M, David M, Morel Y.

Ann Endocrinol (Paris). 2005 Jun;66(3):225-32. Review.

PMID:
15988383

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