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343 related items for PubMed ID: 15775714

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. 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 10; 526(2):239-45. PubMed ID: 23570880
    [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 10; 88(8):3852-9. PubMed ID: 12915679
    [Abstract] [Full Text] [Related]

  • 5. [Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency].
    Zhang B, Lu ZL, Wang Y, Tao H.
    Yi Chuan Xue Bao; 2004 Sep 10; 31(9):950-5. PubMed ID: 15493145
    [Abstract] [Full Text] [Related]

  • 6. 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 10; 12(1):49-53. PubMed ID: 18392095
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 153(1):99-106. PubMed ID: 15994751
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 90(10):5769-73. PubMed ID: 16046588
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 84(7):2369-72. PubMed ID: 10404805
    [Abstract] [Full Text] [Related]

  • 10. 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 Jul 10; 10(1):55-61. PubMed ID: 9364343
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
    Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, Ward K.
    Prenat Diagn; 2002 Dec 10; 22(13):1171-6. PubMed ID: 12478627
    [Abstract] [Full Text] [Related]

  • 12. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
    Mahmoud RAA, Amr NH, Toaima NN, Kamal TM, Elsedfy HH.
    J Endocrinol Invest; 2022 Feb 10; 45(2):347-359. PubMed ID: 34341969
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 11(3):124-8. PubMed ID: 14514162
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 6(3):193-9. PubMed ID: 11571713
    [Abstract] [Full Text] [Related]

  • 15. 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 Sep 10; 13(6):505. PubMed ID: 10408786
    [Abstract] [Full Text] [Related]

  • 16. Congenital adrenal hyperplasia. Molecular characterization.
    Ko TM, Kao CH, Ho HN, Tseng LH, Hwa HL, Hsu PM, Chuang SM, Lee TY.
    J Reprod Med; 1998 Apr 10; 43(4):379-86. PubMed ID: 9583072
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 106(4):414-9. PubMed ID: 10830908
    [Abstract] [Full Text] [Related]

  • 18. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
    Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2011 Oct 10; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 19. Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.
    Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y.
    Clin Endocrinol (Oxf); 2006 Jun 10; 64(6):645-51. PubMed ID: 16712666
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 88(12):5893-7. PubMed ID: 14671187
    [Abstract] [Full Text] [Related]

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