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Journal Abstract Search

176 related items for PubMed ID: 15110320

  • 1. Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
    Zeng X, Witchel SF, Dobrowolski SF, Moulder PV, Jarvik JW, Telmer CA.
    Mol Genet Metab; 2004 May; 82(1):38-47. PubMed ID: 15110320
    [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. 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]

  • 4. 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]

  • 5. CYP21 mutations and congenital adrenal hyperplasia.
    Lee HH.
    Clin Genet; 2001 May; 59(5):293-301. PubMed ID: 11359457
    [Abstract] [Full Text] [Related]

  • 6. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
    Speiser PW.
    Am J Pharmacogenomics; 2001 May; 1(2):101-10. PubMed ID: 12174671
    [Abstract] [Full Text] [Related]

  • 7. 21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
    Jeske YW, McGown IN, Harris M, Bowling FG, Choong CS, Cowley DM, Cotterill AM.
    J Pediatr Endocrinol Metab; 2009 Feb; 22(2):127-41. PubMed ID: 19449670
    [Abstract] [Full Text] [Related]

  • 8. 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 Feb; 47(10):517-22. PubMed ID: 12376740
    [Abstract] [Full Text] [Related]

  • 9. Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Krone N, Riepe FG, Partsch CJ, Vorhoff W, Brämswig J, Sippell WG.
    Exp Clin Endocrinol Diabetes; 2006 Mar; 114(3):111-7. PubMed ID: 16636976
    [Abstract] [Full Text] [Related]

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

  • 11. 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 Mar; 14(1):90-1. PubMed ID: 10447270
    [Abstract] [Full Text] [Related]

  • 12. 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 Mar; 44(6):339-42. PubMed ID: 14983655
    [Abstract] [Full Text] [Related]

  • 13. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
    Lee HH, Chao HT, Ng HT, Choo KB.
    J Med Genet; 1996 May; 33(5):371-5. PubMed ID: 8733045
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [Multiplex minisequencing applied in detection of human functional CYP21 gene mutations].
    Tokarska M, Barg E, Wikiera B, Dobosz T, Zołedziewska M, Brzezińska K, Jonkisz A, Kosowska B.
    Pediatr Endocrinol Diabetes Metab; 2007 Mar; 13(4):183-6. PubMed ID: 18042312
    [Abstract] [Full Text] [Related]

  • 16. Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.
    Krone N, Braun A, Weinert S, Peter M, Roscher AA, Partsch CJ, Sippell WG.
    Clin Chem; 2002 Jun; 48(6 Pt 1):818-25. PubMed ID: 12028996
    [Abstract] [Full Text] [Related]

  • 17. [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]

  • 18. Mutations in steroid 21-hydroxylase (CYP21).
    White PC, Tusie-Luna MT, New MI, Speiser PW.
    Hum Mutat; 1994 Sep; 3(4):373-8. PubMed ID: 8081391
    [Abstract] [Full Text] [Related]

  • 19. 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; 79(3):214-20. PubMed ID: 12855227
    [Abstract] [Full Text] [Related]

  • 20. 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]

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