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Journal Abstract Search

356 related items for PubMed ID: 23370425

  • 21. Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.
    Massimi A, Malaponti M, Federici L, Vinciguerra D, Manca Bitti ML, Vottero A, Ghizzoni L, Maccarrone M, Cappa M, Bernardini S, Porzio O.
    Horm Metab Res; 2014 Jun; 46(7):515-20. PubMed ID: 24799024
    [Abstract] [Full Text] [Related]

  • 22. 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; 36(10):1311-8. PubMed ID: 14502362
    [Abstract] [Full Text] [Related]

  • 23. CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
    Friães A, Rêgo AT, Aragüés JM, Moura LF, Mirante A, Mascarenhas MR, Kay TT, Lopes LA, Rodrigues JC, Guerra S, Dias T, Teles AG, Gonçalves J.
    Mol Genet Metab; 2006 May; 88(1):58-65. PubMed ID: 16427797
    [Abstract] [Full Text] [Related]

  • 24. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q, Burkardt DD, Kollender S, Faucz FR, Merke DP.
    Mol Genet Genomic Med; 2023 Jul; 11(7):e2195. PubMed ID: 37157918
    [Abstract] [Full Text] [Related]

  • 25. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
    Fanis P, Skordis N, Phylactou LA, Neocleous V.
    Hormones (Athens); 2023 Mar; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 26. Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.
    Robins T, Barbaro M, Lajic S, Wedell A.
    J Clin Endocrinol Metab; 2005 Apr; 90(4):2148-53. PubMed ID: 15623806
    [Abstract] [Full Text] [Related]

  • 27. CYP21A2 intronic variants causing 21-hydroxylase deficiency.
    Concolino P, Rizza R, Costella A, Carrozza C, Zuppi C, Capoluongo E.
    Metabolism; 2017 Jun; 71():46-51. PubMed ID: 28521877
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
    Concolino P, Vendittelli F, Mello E, Carelli Alinovi C, Minucci A, Carrozza C, Santini SA, Zuppi C, Capoluongo E.
    IUBMB Life; 2009 Mar; 61(3):229-35. PubMed ID: 19152428
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. [From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
    Claahsen-van der Grinten HL, Hoefsloot LH.
    Ned Tijdschr Geneeskd; 2007 May 26; 151(21):1174-7. PubMed ID: 17557757
    [Abstract] [Full Text] [Related]

  • 32. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
    Int J Mol Med; 2010 Oct 26; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 33. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
    Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.
    BMC Med Genet; 2010 Jun 29; 11():104. PubMed ID: 20587039
    [Abstract] [Full Text] [Related]

  • 34. Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
    Neocleous V, Ioannou YS, Bartsota M, Costi C, Skordis N, Phylactou LA.
    Clin Biochem; 2009 Sep 29; 42(13-14):1363-7. PubMed ID: 19501079
    [Abstract] [Full Text] [Related]

  • 35. 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 29; 22(2):127-41. PubMed ID: 19449670
    [Abstract] [Full Text] [Related]

  • 36. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
    Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW.
    Exp Clin Endocrinol Diabetes; 2012 Jan 29; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 37. Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
    Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS.
    J Endocrinol Invest; 2013 Jun 29; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 38. 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 Jun 29; 46(12):1707-13. PubMed ID: 18973462
    [Abstract] [Full Text] [Related]

  • 39. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P, Costella A.
    Mol Diagn Ther; 2018 Jun 29; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 40. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 29; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

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