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Items: 1 to 20 of 116

1.
2.

Congenital adrenal hyperplasia: diagnostic advances.

Torresani T, Biason-Lauber A.

J Inherit Metab Dis. 2007 Aug;30(4):563-75. Epub 2007 Aug 10. Erratum in: J Inherit Metab Dis. 2007 Oct;30(5):832.

PMID:
17694353
3.

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.

6.

Gene symbol: CYP21A2.

Tardy VT.

Hum Genet. 2007 Apr;121(2):293. No abstract available.

PMID:
17598208
7.

Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P).

Di Pasquale G, Wasniewska M, Caruso M, Salzano G, Coco M, Lombardo F, De Luca F.

J Endocrinol Invest. 2005 Dec;28(11):1038-9. No abstract available.

PMID:
16483186
8.

Bilateral adrenal myelolipoma associated with adrenogenital syndrome.

Sakaki M, Izaki H, Fukumori T, Taue R, Kishimoto T, Kanayama HO.

Int J Urol. 2006 Jun;13(6):801-2.

9.

Gene symbol: CYP21A2.

Tardy VT, Morel Y.

Hum Genet. 2007 Apr;121(2):293-4. No abstract available.

PMID:
17598238
10.

Gene symbol: CYP21A2.

Tardy VT, Morel Y.

Hum Genet. 2007 Apr;121(2):293. No abstract available.

PMID:
17598237
11.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

Speiser PW, White PC.

Clin Endocrinol (Oxf). 1998 Oct;49(4):411-7. Review. No abstract available.

PMID:
9876336
12.

Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.

Rumsby G, Avey CJ, Conway GS, Honour JW.

Clin Endocrinol (Oxf). 1998 Jun;48(6):707-11.

PMID:
9713558
13.

[Characterization of new splicing mutation in steroid 21-hydroxylase gene].

Rubtsov PM, Igudin EL, Pichugina MIu, Spirin PV, Prasolov VS, Tul'pakov AN.

Bioorg Khim. 2011 Nov-Dec;37(6):815-20. Russian.

PMID:
22497080
14.

Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC.

J Pediatr Endocrinol Metab. 2001 Jan;14(1):27-35.

PMID:
11220701
15.

Gene symbol: CYP21A2. Disease: steroid 21-hydroxylase deficiency.

Tardy V.

Hum Genet. 2006 Apr;119(3):363. No abstract available.

PMID:
17230656
16.

Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB.

J Clin Endocrinol Metab. 1996 Nov;81(11):4081-8.

PMID:
8923864
17.

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.

Friães A, Rêgo AT, Aragüés JM, Moura LF, Mirante A, Mascarenhas MR, Kay TT, Lopes LA, Rodrigues JC, Guerra S, Dias T, Teles AG, Gonçalves J.

Mol Genet Metab. 2006 May;88(1):58-65. Epub 2006 Jan 20.

PMID:
16427797
18.

CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.

Witchel SF, Smith R, Crivellaro CE, Della Manna T, Dichtchekenian V, Setian N, Damiani D.

Hum Genet. 2000 Apr;106(4):414-9.

PMID:
10830908
19.

[Steroid 21-hydroxylase deficiency--congenital adrenal hyperplasia].

Urabe K, Harada F, Sasazuki T.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):903-8. Japanese. No abstract available.

PMID:
3270907
20.

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.

Eur J Endocrinol. 2005 Jul;153(1):99-106.

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