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Items: 1 to 20 of 75

1.

Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.

Bachega TA, Billerbeck AE, Madureira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJ, Mendonca BB.

J Clin Endocrinol Metab. 1998 Dec;83(12):4416-9.

PMID:
9851787
2.

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.

3.

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
4.

21-Hydroxylase deficiency in Brazil.

Bachega TA, Billerbeck AE, Madureira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJ, Mendonça BB.

Braz J Med Biol Res. 2000 Oct;33(10):1211-6.

5.

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
6.

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.

7.

[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
8.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.

Eur J Endocrinol. 2016 Aug;175(2):107-16. doi: 10.1530/EJE-16-0171. Epub 2016 May 16.

9.

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
10.
11.

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
12.

[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].

Bachega TA, Billerbeck AE, Parente EB, Lemos-Marini SH, Baptista MT, Mello MP, Guerra G Jr, Kuperman H, Setian N, Damiani D, Torres N, Castro Md, Mendonça BB.

Arq Bras Endocrinol Metabol. 2004 Oct;48(5):697-704. Epub 2005 Mar 7. Review. Portuguese.

13.

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

Dain LB, Buzzalino ND, Oneto A, Belli S, Stivel M, Pasqualini T, Minutolo C, Charreau EH, Alba LG.

Clin Endocrinol (Oxf). 2002 Feb;56(2):239-45.

PMID:
11874416
14.

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.

15.

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
16.

[Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia].

Fonseca D, Gutiérrez A, Silva C, Coll M, Malo G, Orjuela C, Arteaga C, Giraldo A.

Biomedica. 2005 Jun;25(2):220-30. Spanish.

PMID:
16022377
17.

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.

Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA.

J Clin Endocrinol Metab. 2002 Sep;87(9):4314-7.

PMID:
12213891
18.

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
19.

[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.

20.

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

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