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Journal Abstract Search

190 related items for PubMed ID: 11397897

  • 1. The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
    Dracopoulou-Vabouli M, Maniati-Christidi M, Dacou-Voutetakis C.
    J Clin Endocrinol Metab; 2001 Jun; 86(6):2845-8. PubMed ID: 11397897
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. 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. 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; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 6. [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].
    Mendes C, Vaz Matos I, Ribeiro L, Oliveira MJ, Cardoso H, Borges T.
    Acta Med Port; 2015 Oct; 28(1):56-62. PubMed ID: 25817499
    [Abstract] [Full Text] [Related]

  • 7. 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; 11(3):124-8. PubMed ID: 14514162
    [Abstract] [Full Text] [Related]

  • 8. 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 Sep; 12(4):243-7. PubMed ID: 12966197
    [Abstract] [Full Text] [Related]

  • 9. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
    Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F.
    Clin Endocrinol (Oxf); 2000 Jul; 53(1):117-25. PubMed ID: 10931088
    [Abstract] [Full Text] [Related]

  • 10. [Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan].
    Akhmetova VL, Ramova ZF, Malievskiĭ OA, Khusnutdinova EK.
    Genetika; 2008 Oct; 44(10):1420-8. PubMed ID: 19062540
    [Abstract] [Full Text] [Related]

  • 11. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.
    Proc Natl Acad Sci U S A; 2013 Feb 12; 110(7):2611-6. PubMed ID: 23359698
    [Abstract] [Full Text] [Related]

  • 12. 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 12; 153(1):99-106. PubMed ID: 15994751
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  • 16. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.
    Bachega TA, Billerbeck AE, Madureira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJ, Mendonca BB.
    J Clin Endocrinol Metab; 1998 Dec 12; 83(12):4416-9. PubMed ID: 9851787
    [Abstract] [Full Text] [Related]

  • 17. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Dec 12; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 18. [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 12; 31(9):950-5. PubMed ID: 15493145
    [Abstract] [Full Text] [Related]

  • 19. High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
    Campos VC, Pereira RM, Torres N, Castro Md, Aguiar-Oliveira MH.
    Arq Bras Endocrinol Metabol; 2009 Feb 12; 53(1):40-6. PubMed ID: 19347184
    [Abstract] [Full Text] [Related]

  • 20. The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
    Karaoglan M.
    J Pediatr Endocrinol Metab; 2019 Dec 18; 32(12):1311-1320. PubMed ID: 31693496
    [Abstract] [Full Text] [Related]

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