427 related items for PubMed ID: 31028712
1. High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening.
Castro PS, Rassi TO, Araujo RF, Pezzuti IL, Rodrigues AS, Bachega TASS, Silva IN.
J Pediatr Endocrinol Metab; 2019 May 27; 32(5):499-504. PubMed ID: 31028712
[Abstract] [Full Text] [Related]
2. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
Kopacek C, Prado MJ, da Silva CMD, de Castro SM, Beltrão LA, Vargas PR, Grandi T, Rossetti MLR, Spritzer PM.
J Pediatr (Rio J); 2019 May 27; 95(3):282-290. PubMed ID: 29715434
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3. Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants.
Kopacek C, de Castro SM, Prado MJ, da Silva CM, Beltrão LA, Spritzer PM.
BMC Pediatr; 2017 Jan 17; 17(1):22. PubMed ID: 28095810
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4. 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 17; 108(4):E68. PubMed ID: 11581476
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5. 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 17; 76(6):503-10. PubMed ID: 19930153
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6. 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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7. 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 10; 161(2):285-92. PubMed ID: 19451212
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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 10; 171(6):935-40. PubMed ID: 22234478
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9. 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 10; 82(1):64-70. PubMed ID: 21534945
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10. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels.
Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A.
J Pediatr; 1997 Jan 10; 130(1):128-33. PubMed ID: 9003862
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11. Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Ghizzoni L, Cappa M, Vottero A, Ubertini G, Carta D, Di Iorgi N, Gasco V, Marchesi M, Raggi V, Ibba A, Napoli F, Massimi A, Maghnie M, Loche S, Porzio O.
Eur J Endocrinol; 2011 Aug 10; 165(2):307-14. PubMed ID: 21646284
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12. Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
Soardi FC, Lemos-Marini SH, Coeli FB, Maturana VG, Silva MD, Bernardi RD, Justo GZ, de-Mello MP.
Arq Bras Endocrinol Metabol; 2008 Nov 10; 52(8):1388-92. PubMed ID: 19169499
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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 10; 99(2):158-64. PubMed ID: 24225272
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14. Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
Kösel S, Burggraf S, Fingerhut R, Dörr HG, Roscher AA, Olgemöller B.
Clin Chem; 2005 Feb 10; 51(2):298-304. PubMed ID: 15608154
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15. Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.
Huidobro Fernández B, Echeverria Fernández M, Dulin Iñiguez E, Ezquieta Zubicaray B, Roldán Martín MB, Rodríguez Arnao MD, Rodríguez Sánchez A.
J Pediatr Endocrinol Metab; 2011 Feb 10; 24(3-4):155-62. PubMed ID: 21648283
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16. Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points.
Eshragh N, Doan LV, Connelly KJ, Denniston S, Willis S, LaFranchi SH.
Horm Res Paediatr; 2020 Feb 10; 93(2):128-136. PubMed ID: 32659761
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17. 17-Hydroxyprogesterone in children, adolescents and adults.
Honour JW.
Ann Clin Biochem; 2014 Jul 10; 51(Pt 4):424-40. PubMed ID: 24711560
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18. 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 10; 117(2):126-131. PubMed ID: 28392195
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19. Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
Malikova J, Votava F, Vrzalova Z, Lebl J, Cinek O.
Clin Endocrinol (Oxf); 2012 Aug 10; 77(2):187-94. PubMed ID: 22313422
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20. The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns.
Pearce M, Dauerer E, DiRienzo AG, Caggana M, Tavakoli NP.
Eur J Pediatr; 2017 Jan 10; 176(1):121-129. PubMed ID: 27900477
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