These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

312 related articles for article (PubMed ID: 7749410)

  • 1. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
    Barbat B; Bogyo A; Raux-Demay MC; Kuttenn F; Boué J; Simon-Bouy B; Serre JL; Mornet E
    Hum Mutat; 1995; 5(2):126-30. PubMed ID: 7749410
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 15994751
    [TBL] [Abstract][Full Text] [Related]  

  • 3. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
    L'Allemand D; Tardy V; Grüters A; Schnabel D; Krude H; Morel Y
    J Clin Endocrinol Metab; 2000 Dec; 85(12):4562-7. PubMed ID: 11134109
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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. PubMed ID: 12915679
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [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]  

  • 7. 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]  

  • 8. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Speiser PW; Dupont J; Zhu D; Serrat J; Buegeleisen M; Tusie-Luna MT; Lesser M; New MI; White PC
    J Clin Invest; 1992 Aug; 90(2):584-95. PubMed ID: 1644925
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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. PubMed ID: 10720040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
    Bobba A; Iolascon A; Giannattasio S; Albrizio M; Sinisi A; Prisco F; Schettini F; Marra E
    J Med Genet; 1997 Mar; 34(3):223-8. PubMed ID: 9132494
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
    Killeen AA; Jiddou RR; Sane KS
    Clin Chem; 1998 Dec; 44(12):2410-5. PubMed ID: 9836705
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
    Grigorescu Sido A; Weber MM; Grigorescu Sido P; Clausmeyer S; Heinrich U; Schulze E
    J Clin Endocrinol Metab; 2005 Oct; 90(10):5769-73. PubMed ID: 16046588
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 99(4):488-97. PubMed ID: 9099839
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
    Vakili R; Baradaran-Heravi A; Barid-Fatehi B; Gholamin M; Ghaemi N; Abbaszadegan MR
    Horm Res; 2005; 63(3):119-24. PubMed ID: 15775714
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.