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Journal Abstract Search

439 related items for PubMed ID: 19856253

  • 1. 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]

  • 2. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
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  • 3. 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 10; 75(4):427-35. PubMed ID: 21609351
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  • 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 10; 165(Pt A):51-56. PubMed ID: 27041116
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  • 5. 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 10; 153(1):99-106. PubMed ID: 15994751
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  • 6. 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 10; 90(10):5769-73. PubMed ID: 16046588
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  • 7. 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 10; 88(1):58-65. PubMed ID: 16427797
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 9. 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
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  • 11. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
    de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.
    Eur J Endocrinol; 2016 Aug 28; 175(2):107-16. PubMed ID: 27185867
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  • 12. [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 Aug 28; 28(1):56-62. PubMed ID: 25817499
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  • 13. Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
    Skordis N, Kyriakou A, Tardy V, Ioannou YS, Varvaresou A, Dracopoulou-Vabouli M, Patsalis PC, Shammas C, Neocleous V, Phylactou LA.
    Horm Res Paediatr; 2011 Aug 28; 75(3):180-6. PubMed ID: 20838032
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  • 16. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
    Rumsby G, Avey CJ, Conway GS, Honour JW.
    Clin Endocrinol (Oxf); 1998 Jun 28; 48(6):707-11. PubMed ID: 9713558
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  • 17. 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 28; 120(1):23-7. PubMed ID: 22020670
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