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Items: 1 to 20 of 275

1.

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA.

J Clin Endocrinol Metab. 2003 Aug;88(8):3852-9.

PMID:
12915679
2.

[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].

Liao XY, Zhang YF, Gu XF.

Zhonghua Er Ke Za Zhi. 2003 Sep;41(9):670-4. Chinese.

PMID:
14733808
3.

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP.

J Clin Endocrinol Metab. 2000 Mar;85(3):1059-65.

PMID:
10720040
4.

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.

5.

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.

Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x.

PMID:
21609351
7.

Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.

Dardis A, Bergada I, Bergada C, Rivarola M, Belgorosky A.

J Pediatr Endocrinol Metab. 1997 Jan-Feb;10(1):55-61.

PMID:
9364343
8.

21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.

Jeske YW, McGown IN, Harris M, Bowling FG, Choong CS, Cowley DM, Cotterill AM.

J Pediatr Endocrinol Metab. 2009 Feb;22(2):127-41.

PMID:
19449670
9.

The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.

Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P.

Iran Biomed J. 2008 Jan;12(1):49-53.

10.

Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.

Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR.

Horm Res. 2005;63(3):119-24. Epub 2005 Mar 17.

PMID:
15775714
11.

Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.

Kotaska K, Lisá L, Průsa R.

Cent Eur J Public Health. 2003 Sep;11(3):124-8.

PMID:
14514162
12.

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E.

J Clin Endocrinol Metab. 2005 Oct;90(10):5769-73. Epub 2005 Jul 26.

PMID:
16046588
13.

Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.

Ferenczi A, Garami M, Kiss E, Pék M, Sasvári-Székely M, Barta C, Staub M, Sólyom J, Fekete G.

J Clin Endocrinol Metab. 1999 Jul;84(7):2369-72.

PMID:
10404805
14.

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H.

J Clin Endocrinol Metab. 2004 Jan;89(1):368-74.

PMID:
14715874
15.

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
16.

A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.

Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke MB, Kofler R, Peters H.

Hum Mutat. 1999;13(6):505.

PMID:
10408786
17.
18.

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.

Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.

J Endocrinol Invest. 2015 Nov;38(11):1199-210. doi: 10.1007/s40618-015-0366-8. Epub 2015 Aug 2.

PMID:
26233337
19.

The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.

Khajuria R, Walia R, Bhansali A, Prasad R.

Clin Chim Acta. 2017 Jan;464:189-194. doi: 10.1016/j.cca.2016.11.037. Epub 2016 Nov 25.

PMID:
27890570

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