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144 related items for PubMed ID: 12481658

  • 1. Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report.
    Khan AH, Nasir MI, Moatter T.
    J Pak Med Assoc; 2002 Jul; 52(7):287-91. PubMed ID: 12481658
    [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. [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. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

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

  • 6. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
    Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC.
    Hum Mol Genet; 1996 Dec; 5(12):2039-48. PubMed ID: 8968761
    [Abstract] [Full Text] [Related]

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

  • 8. 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]

  • 9. 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]

  • 10. 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; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study].
    Martínez Olmos MA, Varela JM, Ezquieta B, Hillman N, Díez JJ.
    Med Clin (Barc); 1997 Oct 04; 109(11):421-4. PubMed ID: 9379733
    [Abstract] [Full Text] [Related]

  • 13. 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 04; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 14. 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 04; 22(2):127-41. PubMed ID: 19449670
    [Abstract] [Full Text] [Related]

  • 15. Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
    Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC.
    J Pediatr Endocrinol Metab; 2001 Jan 04; 14(1):27-35. PubMed ID: 11220701
    [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 04; 43(4):379-86. PubMed ID: 9583072
    [Abstract] [Full Text] [Related]

  • 17. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Dubey S, Tardy V, Chowdhury MR, Gupta N, Jain V, Deka D, Sharma P, Morel Y, Kabra M.
    Indian J Med Res; 2017 Feb 04; 145(2):194-202. PubMed ID: 28639595
    [Abstract] [Full Text] [Related]

  • 18. [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 Feb 04; 13(4):183-6. PubMed ID: 18042312
    [Abstract] [Full Text] [Related]

  • 19. 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 04; 114(3):111-7. PubMed ID: 16636976
    [Abstract] [Full Text] [Related]

  • 20. [A molecular method of diagnosis of congenital adrenal hyperplasia].
    Israel S, Brautbar C.
    Harefuah; 2000 Dec 04; 139(11-12):429-33, 494. PubMed ID: 11341187
    [Abstract] [Full Text] [Related]

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