152 related articles for article (PubMed ID: 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; Farah SB; de-Mello MP
Braz J Med Biol Res; 1996 Jan; 29(1):1-13. PubMed ID: 8731325
[TBL] [Abstract][Full Text] [Related]
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; Marini SH; De Mello MP
Acta Paediatr; 1999 Mar; 88(3):275-83. PubMed ID: 10229037
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 10189236
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 3260033
[TBL] [Abstract][Full Text] [Related]
5. Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.
Partanen J; Koskimies S; Sipilä I; Lipsanen V
Am J Hum Genet; 1989 May; 44(5):660-70. PubMed ID: 2565078
[TBL] [Abstract][Full Text] [Related]
6. High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia.
Lobato MN; Aledo R; Meseguer A
Hum Hered; 1998; 48(4):216-25. PubMed ID: 9694253
[TBL] [Abstract][Full Text] [Related]
7. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Helmberg A; Tusie-Luna MT; Tabarelli M; Kofler R; White PC
Mol Endocrinol; 1992 Aug; 6(8):1318-22. PubMed ID: 1406709
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 10209571
[TBL] [Abstract][Full Text] [Related]
9. 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; 11():104. PubMed ID: 20587039
[TBL] [Abstract][Full Text] [Related]
10. 21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.
Haglund-Stengler B; Ritzén EM; Luthman H
J Clin Endocrinol Metab; 1990 Jan; 70(1):43-8. PubMed ID: 2152933
[TBL] [Abstract][Full Text] [Related]
11. Mutations in steroid 21-hydroxylase (CYP21).
White PC; Tusie-Luna MT; New MI; Speiser PW
Hum Mutat; 1994; 3(4):373-8. PubMed ID: 8081391
[TBL] [Abstract][Full Text] [Related]
12. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Delague V; Souraty N; Khallouf E; Tardy V; Chouery E; Halaby G; Loiselet J; Morel Y; Mégarbané A
Horm Res; 2000; 53(2):77-82. PubMed ID: 10971093
[TBL] [Abstract][Full Text] [Related]
13. H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.
Lau IF; Soardi FC; Lemos-Marini SH; Guerra G; Baptista MT; De Mello MP
J Clin Endocrinol Metab; 2001 Dec; 86(12):5877-80. PubMed ID: 11739456
[TBL] [Abstract][Full Text] [Related]
14. CYP21B gene conversion and complete CYP21A gene deletion in congenital adrenal hyperplasia.
Lobaccaro JM; Ghanem N; Lefranc G; Sultan C
Ann Genet; 1990; 33(2):70-5. PubMed ID: 1978631
[TBL] [Abstract][Full Text] [Related]
15. Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
Rumsby G; Fielder AH; Hague WM; Honour JW
J Med Genet; 1988 Sep; 25(9):596-9. PubMed ID: 3263505
[TBL] [Abstract][Full Text] [Related]
16. [Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency].
Dardis A; Marino R; Bergadá I; Escobar ME; Gryngarten M; Rivarola MA; Belgorosky A
Medicina (B Aires); 2001; 61(1):28-34. PubMed ID: 11265620
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 10830908
[TBL] [Abstract][Full Text] [Related]
18. Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.
Ghanem N; Lobaccaro JM; Buresi C; Abbal M; Halaby G; Sultan C; Lefranc G
Hum Genet; 1990 Dec; 86(2):117-25. PubMed ID: 1979956
[TBL] [Abstract][Full Text] [Related]
19. Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Amor M; Parker KL; Globerman H; New MI; White PC
Proc Natl Acad Sci U S A; 1988 Mar; 85(5):1600-4. PubMed ID: 3257825
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 12478627
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
