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Journal Abstract Search

208 related items for PubMed ID: 10364682

  • 1. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
    Lobato MN, Ordóñez-Sánchez ML, Tusié-Luna MT, Meseguer A.
    Hum Hered; 1999 Jun; 49(3):169-75. PubMed ID: 10364682
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. [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]

  • 4. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
    Nunez BS, Lobato MN, White PC, Meseguer A.
    Biochem Biophys Res Commun; 1999 Sep 07; 262(3):635-7. PubMed ID: 10471376
    [Abstract] [Full Text] [Related]

  • 5. CYP21 mutations and congenital adrenal hyperplasia.
    Lee HH.
    Clin Genet; 2001 May 07; 59(5):293-301. PubMed ID: 11359457
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 149(2):137-44. PubMed ID: 12887291
    [Abstract] [Full Text] [Related]

  • 7. Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
    Dardis A, Bergada I, Bergada C, Rivarola M, Belgorosky A.
    J Pediatr Endocrinol Metab; 1997 Aug 07; 10(1):55-61. PubMed ID: 9364343
    [Abstract] [Full Text] [Related]

  • 8. 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 07; 153(1):99-106. PubMed ID: 15994751
    [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 Jul 07; 13(6):505. PubMed ID: 10408786
    [Abstract] [Full Text] [Related]

  • 10. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
    Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P.
    Iran Biomed J; 2008 Jan 07; 12(1):49-53. PubMed ID: 18392095
    [Abstract] [Full Text] [Related]

  • 11. 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 07; 48(6 Pt 1):818-25. PubMed ID: 12028996
    [Abstract] [Full Text] [Related]

  • 12. Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.
    Kotaska K, Lisá L, Průsa R.
    Cent Eur J Public Health; 2003 Sep 07; 11(3):124-8. PubMed ID: 14514162
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
    Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H.
    J Clin Endocrinol Metab; 2004 Jan 07; 89(1):368-74. PubMed ID: 14715874
    [Abstract] [Full Text] [Related]

  • 14. A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
    Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B.
    J Clin Endocrinol Metab; 2003 Dec 07; 88(12):5893-7. PubMed ID: 14671187
    [Abstract] [Full Text] [Related]

  • 15. 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 Dec 07; 14(1):90-1. PubMed ID: 10447270
    [Abstract] [Full Text] [Related]

  • 16. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
    Ferenczi A, Garami M, Kiss E, Pék M, Sasvári-Székely M, Barta C, Staub M, Sólyom J, Fekete G.
    J Clin Endocrinol Metab; 1999 Jul 07; 84(7):2369-72. PubMed ID: 10404805
    [Abstract] [Full Text] [Related]

  • 17. Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Yang YP, Corley N, Garcia-Heras J.
    Mol Diagn; 2001 Sep 07; 6(3):193-9. PubMed ID: 11571713
    [Abstract] [Full Text] [Related]

  • 18. 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 Sep 07; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 19. 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 07; 90(10):5769-73. PubMed ID: 16046588
    [Abstract] [Full Text] [Related]

  • 20. Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
    Jiddou RR, Wei WL, Sane KS, Killeen AA.
    Clin Chem; 1999 May 07; 45(5):625-9. PubMed ID: 10222348
    [Abstract] [Full Text] [Related]

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