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Journal Abstract Search

142 related items for PubMed ID: 16022377

  • 1. [Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia].
    Fonseca D, Gutiérrez A, Silva C, Coll M, Malo G, Orjuela C, Arteaga C, Giraldo A.
    Biomedica; 2005 Jun; 25(2):220-30. PubMed ID: 16022377
    [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. Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives.
    Anastasovska V, Kocova M.
    Prilozi; 2010 Sep; 31(2):71-82. PubMed ID: 21258279
    [Abstract] [Full Text] [Related]

  • 4. 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 Sep; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

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

  • 8. 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]

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

  • 10. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
    Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.
    Clin Chem Lab Med; 2008 Oct; 46(12):1707-13. PubMed ID: 18973462
    [Abstract] [Full Text] [Related]

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

  • 12. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.
    J Endocrinol Invest; 2015 Nov; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. [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 28; 44(10):1420-8. PubMed ID: 19062540
    [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 28; 84(7):2369-72. PubMed ID: 10404805
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 85(3):1059-65. PubMed ID: 10720040
    [Abstract] [Full Text] [Related]

  • 18. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
    Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M.
    Braz J Med Biol Res; 2003 Oct 28; 36(10):1311-8. PubMed ID: 14502362
    [Abstract] [Full Text] [Related]

  • 19. Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
    Sadeghi F, Yurur-Kutlay N, Berberoglu M, Cetinkaya E, Aycan Z, Kara C, Ilgin Ruhi H, Ocal G, Siklar Z, Elhan A, Tukun A.
    J Pediatr Endocrinol Metab; 2008 Aug 28; 21(8):781-7. PubMed ID: 18825878
    [Abstract] [Full Text] [Related]

  • 20. Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.
    Anastasovska V, Kocova M.
    J Pediatr Endocrinol Metab; 2010 Sep 28; 23(9):921-6. PubMed ID: 21175091
    [Abstract] [Full Text] [Related]

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