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Results: 1 to 20 of 218

Similar articles for PubMed (Select 8731325)

1.

Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency.

de-Araujo M, Sanches MR, Suzuki LA, Guerra G Jr, Farah SB, de-Mello MP.

Braz J Med Biol Res. 1996 Jan;29(1):1-13. Review.

PMID:
8731325
2.

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
3.

Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.

Bachega TA, Billerbeck AE, Madureira G, Arnhold IJ, Medeiros MA, Marcondes JA, Longui CA, Nicolau W, Bloise W, Mendonca BB.

Hum Hered. 1999 Jan;49(1):9-14.

PMID:
10189236
5.
6.

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

White PC, Vitek A, Dupont B, New MI.

Proc Natl Acad Sci U S A. 1988 Jun;85(12):4436-40.

7.

Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.

Koppens PF, Hoogenboezem T, Drop SL, de Muinck-Keizer-Schrama SM, Degenhart HJ.

Clin Endocrinol (Oxf). 1998 Dec;49(6):815-22.

PMID:
10209571
8.

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.

9.

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
10.

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
11.
12.

Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).

Karaviti LP, Mercado AB, Mercado MB, Speiser PW, Buegeleisen M, Crawford C, Antonian L, White PC, New MI.

J Steroid Biochem Mol Biol. 1992 Mar;41(3-8):445-51.

PMID:
1562517
13.

[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
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.
16.

Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.

Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, Ward K.

Prenat Diagn. 2002 Dec;22(13):1171-6.

PMID:
12478627
17.

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Mornet E, Crété P, Kuttenn F, Raux-Demay MC, Boué J, White PC, Boué A.

Am J Hum Genet. 1991 Jan;48(1):79-88.

19.

Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.

Koppens PF, Hoogenboezem T, Halley DJ, Barendse CA, Oostenbrink AJ, Degenhart HJ.

Eur J Pediatr. 1992 Dec;151(12):885-92.

PMID:
1473541
20.

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.

BMC Med Genet. 2010 Jun 29;11:104. doi: 10.1186/1471-2350-11-104.

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