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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

246 related items for PubMed ID: 11571713

  • 1. 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; 6(3):193-9. PubMed ID: 11571713
    [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. 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]

  • 4. 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; 12(1):49-53. PubMed ID: 18392095
    [Abstract] [Full Text] [Related]

  • 5. 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; 88(12):5893-7. PubMed ID: 14671187
    [Abstract] [Full Text] [Related]

  • 6. Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.
    Rothberg PG, Baker DW, Bradley JF.
    Genet Test; 1998 Dec; 2(4):343-6. PubMed ID: 10464614
    [Abstract] [Full Text] [Related]

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

  • 8. 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 Dec; 13(6):505. PubMed ID: 10408786
    [Abstract] [Full Text] [Related]

  • 9. 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; 43(4):379-86. PubMed ID: 9583072
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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; 45(2):347-359. PubMed ID: 34341969
    [Abstract] [Full Text] [Related]

  • 17. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
    Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W.
    J Pediatr Endocrinol Metab; 2020 Jul 28; 33(7):893-900. PubMed ID: 32614782
    [Abstract] [Full Text] [Related]

  • 18. CYP21 mutations and congenital adrenal hyperplasia.
    Lee HH.
    Clin Genet; 2001 May 28; 59(5):293-301. PubMed ID: 11359457
    [Abstract] [Full Text] [Related]

  • 19. 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 28; 49(3):169-75. PubMed ID: 10364682
    [Abstract] [Full Text] [Related]

  • 20. Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
    Kotaska K, Průsa R.
    Med Princ Pract; 2003 Jun 28; 12(4):243-7. PubMed ID: 12966197
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.