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Results: 1 to 20 of 85

1.

CYP21A2 genotypes do not predict the severity of hyperandrogenic manifestations in the nonclassical form of congenital adrenal hyperplasia.

Moura-Massari VO, Bugano DD, Marcondes JA, Gomes LG, Mendonca BB, Bachega TA.

Horm Metab Res. 2013 Apr;45(4):301-7. doi: 10.1055/s-0032-1330007. Epub 2013 Jan 15.

PMID:
23322511
[PubMed - indexed for MEDLINE]
2.

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2000 May;52(5):601-7.

PMID:
10792340
[PubMed - indexed for MEDLINE]
3.

Non-classical congenital adrenal hyperplasia.

Dacou-Voutetakis C, Dracopoulou M.

Pediatr Endocrinol Rev. 2006 Jan;3 Suppl 1:195-7.

PMID:
16641859
[PubMed - indexed for MEDLINE]
4.

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.

Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M.

Braz J Med Biol Res. 2003 Oct;36(10):1311-8. Epub 2003 Sep 16.

PMID:
14502362
[PubMed - indexed for MEDLINE]
Free Article
5.

A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype.

Speiser PW, Knochenhauer ES, Dewailly D, Fruzzetti F, Marcondes JA, Azziz R.

Mol Genet Metab. 2000 Nov;71(3):527-34.

PMID:
11073721
[PubMed - indexed for MEDLINE]
6.

Congenital adrenal hyperplasia.

Pang S.

Baillieres Clin Obstet Gynaecol. 1997 Jun;11(2):281-306. Review.

PMID:
9536212
[PubMed - indexed for MEDLINE]
7.

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W; United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

J Clin Endocrinol Metab. 2013 Feb;98(2):E346-54. doi: 10.1210/jc.2012-3343. Epub 2013 Jan 21.

PMID:
23337727
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F.

J Clin Endocrinol Metab. 2009 May;94(5):1570-8. doi: 10.1210/jc.2008-1582. Epub 2009 Feb 10.

PMID:
19208730
[PubMed - indexed for MEDLINE]
9.

Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.

Silveira EL, Elnecave RH, dos Santos EP, Moura V, Pinto EM, van der Linden Nader I, Mendonca BB, Bachega TA.

Clin Genet. 2009 Dec;76(6):503-10. doi: 10.1111/j.1399-0004.2009.01274.x.

PMID:
19930153
[PubMed - indexed for MEDLINE]
10.

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.

Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y.

Clin Endocrinol (Oxf). 2006 Jun;64(6):645-51.

PMID:
16712666
[PubMed - indexed for MEDLINE]
12.

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

Blanché H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanné-Chantelot C.

Hum Genet. 1997 Nov;101(1):56-60.

PMID:
9385370
[PubMed - indexed for MEDLINE]
13.

The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.

Escobar-Morreale HF, San Millán JL, Smith RR, Sancho J, Witchel SF.

Fertil Steril. 1999 Oct;72(4):629-38.

PMID:
10521100
[PubMed - indexed for MEDLINE]
14.

Congenital adrenal hyperplasia in adolescents: diagnosis and management.

Lin-Su K, Nimkarn S, New MI.

Ann N Y Acad Sci. 2008;1135:95-8. doi: 10.1196/annals.1429.021. Review.

PMID:
18574213
[PubMed - indexed for MEDLINE]
15.

High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.

Campos VC, Pereira RM, Torres N, Castro Md, Aguiar-Oliveira MH.

Arq Bras Endocrinol Metabol. 2009 Feb;53(1):40-6.

PMID:
19347184
[PubMed - indexed for MEDLINE]
Free Article
16.

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.

Pasqualini T, Alonso G, Tomasini R, Galich AM, Buzzalino N, Fernandez C, Minutolo C, Alba L, Dain L.

Medicina (B Aires). 2007;67(3):253-61.

PMID:
17628913
[PubMed - indexed for MEDLINE]
17.

Results of the ACTH stimulation test in hirsute women.

Erel CT, Senturk LM, Oral E, Mutlu H, Colgar U, Seyisoglu H, Ertungealp E.

J Reprod Med. 1999 Mar;44(3):247-52.

PMID:
10202742
[PubMed - indexed for MEDLINE]
18.

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Golmard JL, Tardy V, Morel Y, Clauin S, Coussieu C, Boudou P, Mowzowicz I, Bachelot A, Touraine P, Kuttenn F.

J Clin Endocrinol Metab. 2010 Mar;95(3):1182-90. doi: 10.1210/jc.2009-1383. Epub 2010 Jan 15.

PMID:
20080854
[PubMed - indexed for MEDLINE]
19.

The prevalence of late onset congenital adrenal hyperplasia in hirsute women from Central Anatolia.

Kamel N, Tonyukuk V, Emral R, Corapçioğlu D, Baştemir M, Güllü S.

Endocr J. 2003 Dec;50(6):815-23.

PMID:
14709856
[PubMed - indexed for MEDLINE]
Free Article
20.

Extensive clinical experience: nonclassical 21-hydroxylase deficiency.

New MI.

J Clin Endocrinol Metab. 2006 Nov;91(11):4205-14. Epub 2006 Aug 15. Review. Erratum in: J Clin Endocrinol Metab. 2007 Jan;92(1):142. Dosage error in article text.

PMID:
16912124
[PubMed - indexed for MEDLINE]

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