Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 127

1.
2.

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
3.

[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
4.

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
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
6.

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.

Proc Natl Acad Sci U S A. 2013 Feb 12;110(7):2611-6. doi: 10.1073/pnas.1300057110. Epub 2013 Jan 28.

7.

[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].

Mendes C, Vaz Matos I, Ribeiro L, Oliveira MJ, Cardoso H, Borges T.

Acta Med Port. 2015 Jan-Feb;28(1):56-62. Epub 2015 Feb 27. Portuguese.

8.

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F.

Clin Endocrinol (Oxf). 2000 Jul;53(1):117-25.

PMID:
10931088
9.

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
10.

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.

11.

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.

13.

[Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan].

Akhmetova VL, Ramova ZF, Malievskiĭ OA, Khusnutdinova EK.

Genetika. 2008 Oct;44(10):1420-8. Russian.

PMID:
19062540
14.

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.

15.

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.

16.

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.

Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):51-56. doi: 10.1016/j.jsbmb.2016.03.035. Epub 2016 Mar 31.

PMID:
27041116
17.

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
18.
19.

Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.

Paulino LC, Araujo M, Guerra G Jr, Marini SH, De Mello MP.

Acta Paediatr. 1999 Mar;88(3):275-83.

PMID:
10229037
20.

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier JP, Cartigny M, Morel Y.

J Clin Endocrinol Metab. 2008 May;93(5):1901-8. doi: 10.1210/jc.2007-2701. Epub 2008 Mar 4.

PMID:
18319307

Supplemental Content

Support Center