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PUBMED FOR HANDHELDS

Journal Abstract Search


270 related items for PubMed ID: 19930153

  • 1. Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
    Silveira EL, Elnecave RH, dos Santos EP, Moura V, Pinto EM, van der Linden Nader I, Mendonca BB, Bachega TA.
    Clin Genet; 2009 Dec; 76(6):503-10. PubMed ID: 19930153
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  • 3. Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
    Liu SY, Lee CT, Tung YC, Chien YH, Hwu WL, Tsai WY.
    J Formos Med Assoc; 2018 Feb; 117(2):126-131. PubMed ID: 28392195
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  • 4. Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia.
    Cavarzere P, Samara-Boustani D, Flechtner I, Dechaux M, Elie C, Tardy V, Morel Y, Polak M.
    Eur J Endocrinol; 2009 Aug; 161(2):285-92. PubMed ID: 19451212
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  • 5. [Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience].
    Cardoso CB, Fonseca AA, Oliveira Mde F, Pereira BB, Guimarães MM.
    Arq Bras Endocrinol Metabol; 2005 Feb; 49(1):112-9. PubMed ID: 16544042
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  • 7. Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening.
    Sarafoglou K, Lorentz CP, Otten N, Oetting WS, Grebe SK.
    Clin Genet; 2012 Jul; 82(1):64-70. PubMed ID: 21534945
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  • 8. 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; 171(6):935-40. PubMed ID: 22234478
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  • 11. 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; 108(4):E68. PubMed ID: 11581476
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  • 12. A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
    Kawashima Y, Usui T, Fujimoto M, Miyahara N, Nishimura R, Hanaki K, Kanzaki S.
    Endocr J; 2015 Oct; 62(1):101-6. PubMed ID: 25319875
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  • 13. No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.
    Hird BE, Tetlow L, Tobi S, Patel L, Clayton PE.
    Arch Dis Child; 2014 Feb; 99(2):158-64. PubMed ID: 24225272
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  • 14. Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.
    Hayashi GY, Carvalho DF, de Miranda MC, Faure C, Vallejos C, Brito VN, Rodrigues AS, Madureira G, Mendonca BB, Bachega TA.
    Clin Endocrinol (Oxf); 2017 Apr; 86(4):480-487. PubMed ID: 27978607
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  • 18. Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
    Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.
    J Perinatol; 2013 Jan; 33(1):76-8. PubMed ID: 23269230
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