BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 8698338)

  • 1. An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
    Lajic S; Wedell A
    Hum Genet; 1996 Aug; 98(2):182-4. PubMed ID: 8698338
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 74(3):553-8. PubMed ID: 1740489
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 12213891
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
    Manfras BJ; Swinyard M; Rudert WA; Ball EJ; Lee PA; Kühnl P; Trucco M; Böhm BO
    Hum Genet; 1993 Aug; 92(1):33-9. PubMed ID: 8365724
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
    Mathur R; Menon PS; Kabra M; Goyal RK; Verma IC
    J Pediatr Endocrinol Metab; 2001 Jan; 14(1):27-35. PubMed ID: 11220701
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
    Di Pasquale L; Indovina S; Wasniewska M; Mirabelli S; Porcelli P; Rulli I; Salzano G; De Luca F
    J Endocrinol Invest; 2007 Oct; 30(9):806-7. PubMed ID: 17993777
    [No Abstract]   [Full Text] [Related]  

  • 7. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
    Kohn B; Day D; Alemzadeh R; Enerio D; Patel SV; Pelczar JV; Speiser PW
    Am J Med Genet; 1995 Jul; 57(3):450-4. PubMed ID: 7677150
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
    Wang HH; Lee HH; Wu DA; Lee YJ; Chung BC; Wang TR
    Acta Paediatr Taiwan; 2003; 44(6):339-42. PubMed ID: 14983655
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Witchel SF; Bhamidipati DK; Hoffman EP; Cohen JB
    J Clin Endocrinol Metab; 1996 Nov; 81(11):4081-8. PubMed ID: 8923864
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 10408786
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
    Loke KY; Lee YS; Lee WW; Poh LK
    Horm Res; 2001; 55(4):179-84. PubMed ID: 11598371
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
    Wedell A; Luthman H
    Hum Mol Genet; 1993 May; 2(5):499-504. PubMed ID: 8518786
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.
    Chin D; Speiser PW; Imperato-McGinley J; Dixit N; Uli N; David R; Oberfield SE
    J Clin Endocrinol Metab; 1998 Jun; 83(6):1940-5. PubMed ID: 9626123
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.
    Lee HH; Chang SF
    J Endocrinol; 2001 Dec; 171(3):397-402. PubMed ID: 11739005
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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. PubMed ID: 14733808
    [TBL] [Abstract][Full Text] [Related]  

  • 17. de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.
    Tajima T; Fujieda K; Fujii-Kuriyama Y
    J Clin Endocrinol Metab; 1993 Jul; 77(1):86-9. PubMed ID: 8325964
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
    Dolzan V; Stopar-Obreza M; Zerjav-Tansek M; Breskvar K; Krzisnik C; Battelino T
    Eur J Endocrinol; 2003 Aug; 149(2):137-44. PubMed ID: 12887291
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
    Asanuma A; Ohura T; Ogawa E; Sato S; Igarashi Y; Matsubara Y; Iinuma K
    J Hum Genet; 1999; 44(5):312-7. PubMed ID: 10496074
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
    Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.