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Results: 1 to 20 of 40

1.

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

Yoo Y, Chang MS, Lee J, Cho SY, Park SW, Jin DK, Park HD.

Ann Pediatr Endocrinol Metab. 2013 Sep;18(3):128-34. doi: 10.6065/apem.2013.18.3.128. Epub 2013 Sep 30.

PMID:
24904866
[PubMed]
Free PMC Article
2.

Mistaken gender identity in non-classical congenital adrenal hyperplasia.

Kukreti P, Kandpal M, Jiloha RC.

Indian J Psychiatry. 2014 Apr;56(2):182-4. doi: 10.4103/0019-5545.130504.

PMID:
24891708
[PubMed]
Free PMC Article
3.

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

Taboas M, Gómez Acuña L, Scaia MF, Bruque CD, Buzzalino N, Stivel M, Ceballos NR, Dain L.

PLoS One. 2014 Mar 25;9(3):e92181. doi: 10.1371/journal.pone.0092181. eCollection 2014.

PMID:
24667412
[PubMed - in process]
Free PMC Article
4.

Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance.

Knowles RL, Khalid JM, Oerton JM, Hindmarsh PC, Kelnar CJ, Dezateux C.

Arch Dis Child. 2014 Jan;99(1):30-4. doi: 10.1136/archdischild-2012-303070. Epub 2013 Sep 16.

PMID:
24043550
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Approach to the patient: the adult with congenital adrenal hyperplasia.

Auchus RJ, Arlt W.

J Clin Endocrinol Metab. 2013 Jul;98(7):2645-55. doi: 10.1210/jc.2013-1440. Review.

PMID:
23837188
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[Congenital adrenal hyperplasia of late revelation: about a rare case].

Jayi S, Fdili FZ, Bouguern H, Chaara H, Melhouf A.

Pan Afr Med J. 2013 Apr 29;14:165. doi: 10.11604/pamj.2013.14.165.2186. Print 2013. French. No abstract available.

PMID:
23819007
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB.

J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87. doi: 10.1210/jc.2012-3148. Epub 2013 Jan 2.

PMID:
23284009
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.

Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP.

J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38. doi: 10.1210/jc.2012-2102. Epub 2012 Sep 18.

PMID:
22990093
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Chen W, Xu Z, Nishitani M, Van Ryzin C, McDonnell NB, Merke DP.

Hum Genet. 2012 Dec;131(12):1889-94. doi: 10.1007/s00439-012-1217-8. Epub 2012 Aug 12.

PMID:
22886582
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Congenital adrenal hyperplasia.

Dessinioti C, Katsambas A.

Dermatoendocrinol. 2009 Mar 1;1(2):87-91. doi: 10.4161/derm.1.2.7818.

PMID:
22523607
[PubMed]
Free PMC Article
11.

Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update.

Trapp CM, Oberfield SE.

Steroids. 2012 Mar 10;77(4):342-6. doi: 10.1016/j.steroids.2011.12.009. Epub 2011 Dec 13. Review.

PMID:
22186144
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2.

Yoshimoto FK, Desilets MC, Auchus RJ.

J Steroid Biochem Mol Biol. 2012 Jan;128(1-2):38-50. doi: 10.1016/j.jsbmb.2011.09.007. Epub 2011 Oct 5.

PMID:
22001566
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Congenital adrenal hyperplasia: an update in children.

Trapp CM, Speiser PW, Oberfield SE.

Curr Opin Endocrinol Diabetes Obes. 2011 Jun;18(3):166-70. doi: 10.1097/MED.0b013e328346938c. Review.

PMID:
21494138
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Final adult height in children with congenital adrenal hyperplasia treated with growth hormone.

Lin-Su K, Harbison MD, Lekarev O, Vogiatzi MG, New MI.

J Clin Endocrinol Metab. 2011 Jun;96(6):1710-7. doi: 10.1210/jc.2010-2699. Epub 2011 Mar 30.

PMID:
21450983
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.

Nandagopal R, Sinaii N, Avila NA, Van Ryzin C, Chen W, Finkielstain GP, Mehta SP, McDonnell NB, Merke DP.

Eur J Endocrinol. 2011 Jun;164(6):977-84. doi: 10.1530/EJE-11-0019. Epub 2011 Mar 28.

PMID:
21444649
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.

Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.

J Clin Res Pediatr Endocrinol. 2009;1(3):116-28. doi: 10.4008/jcrpe.v1i3.49. Epub 2009 Feb 2.

PMID:
21274396
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.

Minutolo C, Nadra AD, Fernández C, Taboas M, Buzzalino N, Casali B, Belli S, Charreau EH, Alba L, Dain L.

PLoS One. 2011 Jan 11;6(1):e15899. doi: 10.1371/journal.pone.0015899.

PMID:
21264314
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.

Miller WL, Auchus RJ.

Endocr Rev. 2011 Feb;32(1):81-151. doi: 10.1210/er.2010-0013. Epub 2010 Nov 4. Review. Erratum in: Endocr Rev. 2011 Aug;32(4):579.

PMID:
21051590
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.

J Clin Endocrinol Metab. 2011 Jan;96(1):E161-72. doi: 10.1210/jc.2010-0319. Epub 2010 Oct 6.

PMID:
20926536
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC; Endocrine Society.

J Clin Endocrinol Metab. 2010 Sep;95(9):4133-60. doi: 10.1210/jc.2009-2631. Erratum in: J Clin Endocrinol Metab. 2010 Nov;95(11):5137.

PMID:
20823466
[PubMed - indexed for MEDLINE]
Free PMC Article

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