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313 related items for 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
    [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
    [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
    [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
    [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
    [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
    [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
    [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
    [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 Aug; 13(6):505. PubMed ID: 10408786
    [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
    [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
    [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 Mar; 44(5):312-7. PubMed ID: 10496074
    [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
    [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
    [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 Aug; 53(2):77-82. PubMed ID: 10971093
    [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
    [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
    [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
    [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 Apr; 63(3):119-24. PubMed ID: 15775714
    [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 Apr; 55(4):179-84. PubMed ID: 11598371
    [Abstract] [Full Text] [Related]

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