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554 related items for PubMed ID: 15994751

  • 21. 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]

  • 22. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
    Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boué J, Simon-Bouy B, Serre JL, Mornet E.
    Hum Mutat; 1995 Apr; 5(2):126-30. PubMed ID: 7749410
    [Abstract] [Full Text] [Related]

  • 23. Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.
    Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y.
    Clin Endocrinol (Oxf); 2006 Jun; 64(6):645-51. PubMed ID: 16712666
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  • 24. The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
    Livadas S, Dracopoulou M, Dastamani A, Sertedaki A, Maniati-Christidi M, Magiakou AM, Kanaka-Gantenbein C, Chrousos GP, Dacou-Voutetakis C.
    Clin Endocrinol (Oxf); 2015 Apr; 82(4):543-9. PubMed ID: 25041270
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  • 25. Mutations in steroid 21-hydroxylase (CYP21).
    White PC, Tusie-Luna MT, New MI, Speiser PW.
    Hum Mutat; 1994 Apr; 3(4):373-8. PubMed ID: 8081391
    [Abstract] [Full Text] [Related]

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

  • 27. Salt wasting in simple virilizing congenital adrenal hyperplasia.
    Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H.
    J Pediatr Endocrinol Metab; 2001 Apr; 14(9):1649-55. PubMed ID: 11795656
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  • 28. 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 Apr; 13(6):505. PubMed ID: 10408786
    [Abstract] [Full Text] [Related]

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

  • 30. 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]

  • 31. 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]

  • 32. Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.
    Marques CJ, Pignatelli D, Carvalho B, Barceló J, Almeida AC, Fernandes S, Witchel SF, Sousa M, Oliveira MJ, Freitas P, Fontoura M, Carvalho D, Barros A, Carvalho F.
    Exp Clin Endocrinol Diabetes; 2010 Aug; 118(8):505-12. PubMed ID: 19856253
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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; 49(3):169-75. PubMed ID: 10364682
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  • 35. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
    Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E.
    J Clin Endocrinol Metab; 2005 Oct; 90(10):5769-73. PubMed ID: 16046588
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  • 36. 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
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  • 37. Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
    Patócs A, Tóth M, Barta C, Sasvári-Székely M, Varga I, Szücs N, Jakab C, Gláz E, Rácz K.
    Eur J Endocrinol; 2002 Sep; 147(3):349-55. PubMed ID: 12213672
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  • 38. Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
    Pasqualini T, Alonso G, Tomasini R, Galich AM, Buzzalino N, Fernandez C, Minutolo C, Alba L, Dain L.
    Medicina (B Aires); 2007 Sep; 67(3):253-61. PubMed ID: 17628913
    [Abstract] [Full Text] [Related]

  • 39. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
    Krone N, Braun A, Roscher AA, Schwarz HP.
    Hum Mutat; 1999 Sep; 14(1):90-1. PubMed ID: 10447270
    [Abstract] [Full Text] [Related]

  • 40. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F.
    J Clin Endocrinol Metab; 2001 Jan; 86(1):207-13. PubMed ID: 11232002
    [Abstract] [Full Text] [Related]

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