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Journal Abstract Search

701 related items for PubMed ID: 21534945

  • 61. 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]

  • 62. Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
    Navardauskaitė R, Banevičiūtė K, Songailienė J, Grigalionienė K, Čereškevičius D, Šukys M, Mockevicienė G, Smirnova M, Utkus A, Verkauskienė R.
    Medicina (Kaunas); 2021 Sep 29; 57(10):. PubMed ID: 34684072
    [Abstract] [Full Text] [Related]

  • 63. Adrenal disease in pregnancy.
    Lekarev O, New MI.
    Best Pract Res Clin Endocrinol Metab; 2011 Dec 29; 25(6):959-73. PubMed ID: 22115169
    [Abstract] [Full Text] [Related]

  • 64. Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.
    Witchel SF, Nayak S, Suda-Hartman M, Lee PA.
    J Pediatr; 1997 Aug 29; 131(2):328-31. PubMed ID: 9290628
    [Abstract] [Full Text] [Related]

  • 65. Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia.
    Muirhead S, Sellers EA, Guyda H, Canadian Pediatric Endocrine Group.
    J Pediatr; 2002 Aug 29; 141(2):247-52. PubMed ID: 12183722
    [Abstract] [Full Text] [Related]

  • 66. The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
    Neocleous V, Fanis P, Toumba M, Stylianou C, Picolos M, Andreou E, Kyriakou A, Iasonides M, Nicolaou S, Kyriakides TC, Tanteles GA, Skordis N, Phylactou LA.
    Horm Metab Res; 2019 Sep 29; 51(9):586-594. PubMed ID: 31505704
    [Abstract] [Full Text] [Related]

  • 67. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
    Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI.
    J Clin Endocrinol Metab; 1985 Jul 29; 61(1):89-97. PubMed ID: 3873469
    [Abstract] [Full Text] [Related]

  • 68. Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance.
    Votava F, Novotna D, Kracmar P, Vinohradska H, Stahlova-Hrabincova E, Vrzalova Z, Neumann D, Malikova J, Lebl J, Matern D.
    Eur J Pediatr; 2012 Jun 29; 171(6):935-40. PubMed ID: 22234478
    [Abstract] [Full Text] [Related]

  • 69. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
    L'Allemand D, Tardy V, Grüters A, Schnabel D, Krude H, Morel Y.
    J Clin Endocrinol Metab; 2000 Dec 29; 85(12):4562-7. PubMed ID: 11134109
    [Abstract] [Full Text] [Related]

  • 70. Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
    Hochberg Z, Benderly A, Kahana L, Zadik Z.
    J Clin Endocrinol Metab; 1986 Jul 29; 63(1):36-40. PubMed ID: 3011843
    [Abstract] [Full Text] [Related]

  • 71. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.
    Nordenström A, Wedell A, Hagenfeldt L, Marcus C, Larsson A.
    Pediatrics; 2001 Oct 29; 108(4):E68. PubMed ID: 11581476
    [Abstract] [Full Text] [Related]

  • 72. Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999-2018) in the absence of newborn screening in Sri Lanka.
    Seneviratne SN, Sandakelum U, Jayawardena CH, Weerasinghe AM, Wickramarachchi PS, de Silva S.
    J Pediatr Endocrinol Metab; 2021 Sep 27; 34(9):1131-1137. PubMed ID: 34192833
    [Abstract] [Full Text] [Related]

  • 73. [Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone].
    Sólyom J, Eckhardt G, Török D.
    Orv Hetil; 2004 Oct 03; 145(40):2051-6. PubMed ID: 15559532
    [Abstract] [Full Text] [Related]

  • 74. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB.
    Clin Endocrinol (Oxf); 2000 May 03; 52(5):601-7. PubMed ID: 10792340
    [Abstract] [Full Text] [Related]

  • 75. Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
    Grošelj U, Žerjav Tanšek M, Trebušak Podkrajšek K, Hovnik T, Battelino T, Vita D.
    Acta Chim Slov; 2016 May 03; 63(1):33-7. PubMed ID: 26970786
    [Abstract] [Full Text] [Related]

  • 76. Blood pressure in the first year of life in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a pilot study.
    Mooij CF, Kapusta L, Otten BJ, Claahsen-van der Grinten HL.
    Horm Res Paediatr; 2010 May 03; 74(5):328-32. PubMed ID: 20357427
    [Abstract] [Full Text] [Related]

  • 77. Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH).
    Hoyer-Kuhn H, Eckert AJ, Binder G, Bonfig W, Dübbers A, Riedl S, Woelfle J, Dörr HG, Holl RW.
    J Clin Endocrinol Metab; 2023 Oct 18; 108(11):e1199-e1204. PubMed ID: 37256841
    [Abstract] [Full Text] [Related]

  • 78. [Analysis of the association of HLA-DQ1 alleles with mutation of the 21-hydroxylase gene in patients with congenital adrenal hyperplasia].
    Osinovskaia NS, Ivashchenko TE, Baranov VS.
    Genetika; 2004 Jan 18; 40(1):97-101. PubMed ID: 15027205
    [Abstract] [Full Text] [Related]

  • 79. Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen.
    Saroufim R, Nebesio TD, Eugster EA.
    Horm Res Paediatr; 2024 Jan 18; 97(5):470-476. PubMed ID: 37992692
    [Abstract] [Full Text] [Related]

  • 80. 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 18; 64(6):645-51. PubMed ID: 16712666
    [Abstract] [Full Text] [Related]

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