149 related items for PubMed ID: 10209571
1. 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
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2. CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
Koppens PF, Hoogenboezem T, Degenhart HJ.
Eur J Hum Genet; 2000 Nov; 8(11):827-36. PubMed ID: 11093272
[Abstract] [Full Text] [Related]
3. Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Speiser PW, Agdere L, Ueshiba H, White PC, New MI.
N Engl J Med; 1991 Jan 17; 324(3):145-9. PubMed ID: 1984191
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4. Salt wasting in simple virilizing congenital adrenal hyperplasia.
Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H.
J Pediatr Endocrinol Metab; 2001 Jan 17; 14(9):1649-55. PubMed ID: 11795656
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5. Mutations in steroid 21-hydroxylase (CYP21).
White PC, Tusie-Luna MT, New MI, Speiser PW.
Hum Mutat; 1994 Jan 17; 3(4):373-8. PubMed ID: 8081391
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6. 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 17; 29(1):1-13. PubMed ID: 8731325
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7. Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Lee HH, Niu DM, Lin RW, Chan P, Lin CY.
J Hum Genet; 2002 Jan 17; 47(10):517-22. PubMed ID: 12376740
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8. Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
Lee HH, Chang SF, Lo FS, Chao HT, Lin CY.
Mol Genet Metab; 2003 Jul 17; 79(3):214-20. PubMed ID: 12855227
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9. 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 17; 151(12):885-92. PubMed ID: 1473541
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10. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
Owerbach D, Ballard AL, Draznin MB.
J Clin Endocrinol Metab; 1992 Mar 17; 74(3):553-8. PubMed ID: 1740489
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11. Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
Lee HH, Chang SF, Tsai FJ, Tsai LP, Lin CY.
J Clin Endocrinol Metab; 2003 Jun 17; 88(6):2726-9. PubMed ID: 12788880
[Abstract] [Full Text] [Related]
12. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
Lee HH.
Mol Genet Metab; 2005 Jan 17; 84(1):4-8. PubMed ID: 15639189
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13. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Wedell A.
Clin Lab Med; 1996 Mar 17; 16(1):125-37. PubMed ID: 8867587
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14. Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
Patócs A, Tóth M, Barta C, Sasvári-Székely M, Varga I, Szücs N, Jakab C, Gláz E, Rácz K.
Eur J Endocrinol; 2002 Sep 17; 147(3):349-55. PubMed ID: 12213672
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15. Diversity of the CYP21P-like gene in CYP21 deficiency.
Lee HH.
DNA Cell Biol; 2005 Jan 17; 24(1):1-9. PubMed ID: 15684714
[Abstract] [Full Text] [Related]
16. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
Krone N, Braun A, Roscher AA, Schwarz HP.
Hum Mutat; 1999 Jan 17; 14(1):90-1. PubMed ID: 10447270
[Abstract] [Full Text] [Related]
17. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC.
Hum Mol Genet; 1996 Dec 17; 5(12):2039-48. PubMed ID: 8968761
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18. 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 17; 153(1):99-106. PubMed ID: 15994751
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19. [From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
Claahsen-van der Grinten HL, Hoefsloot LH.
Ned Tijdschr Geneeskd; 2007 May 26; 151(21):1174-7. PubMed ID: 17557757
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20. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Levo A, Partanen J.
Hum Genet; 1997 Apr 26; 99(4):488-97. PubMed ID: 9099839
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