665 related items for PubMed ID: 28392195
1. 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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2. Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era.
Lee CT, Tung YC, Hsiao PH, Lee JS, Tsai WY.
J Formos Med Assoc; 2010 Feb; 109(2):148-55. PubMed ID: 20206839
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3. A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
Gong LF, Gao X, Yang N, Zhao JQ, Yang HH, Kong YY.
J Pediatr Endocrinol Metab; 2019 Mar 26; 32(3):253-258. PubMed ID: 30817302
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4. 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 26; 82(1):64-70. PubMed ID: 21534945
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5. Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing.
Janzen N, Riepe FG, Peter M, Sander S, Steuerwald U, Korsch E, Krull F, Müller HL, Heger S, Brack C, Sander J.
Horm Res Paediatr; 2012 Jul 26; 77(3):195-9. PubMed ID: 22508345
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6. 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 26; 161(2):285-92. PubMed ID: 19451212
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7. 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 26; 76(6):503-10. PubMed ID: 19930153
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8. 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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9. 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
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10. 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 May 27; 24(3-4):155-62. PubMed ID: 21648283
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11. [Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency].
Zeng LT, Han B, Liu BL, Chen X, Zhu H, Chen Y, Chen M, Liu JH, Liu Y, Qiao J.
Zhonghua Nei Ke Za Zhi; 2019 Jun 01; 58(6):428-434. PubMed ID: 31159521
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12. Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants.
Güran T, Tezel B, Gürbüz F, Selver Eklioğlu B, Hatipoğlu N, Kara C, Şimşek E, Çizmecioğlu FM, Ozon A, Baş F, Aydın M, Darendeliler F.
J Clin Res Pediatr Endocrinol; 2019 Feb 20; 11(1):13-23. PubMed ID: 30111524
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13. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG.
Hum Reprod Update; 2004 Feb 20; 10(6):469-85. PubMed ID: 15514016
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14. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U.
Front Endocrinol (Lausanne); 2023 Feb 20; 14():1134133. PubMed ID: 37008950
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15. 17-Hydroxyprogesterone in children, adolescents and adults.
Honour JW.
Ann Clin Biochem; 2014 Jul 20; 51(Pt 4):424-40. PubMed ID: 24711560
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16. 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 20; 99(2):158-64. PubMed ID: 24225272
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17. Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants.
Güran T, Tezel B, Çakır M, Akıncı A, Orbak Z, Keskin M, Selver Eklioğlu B, Ozon A, Özbek MN, Karagüzel G, Hatipoğlu N, Gürbüz F, Çizmecioğlu FM, Kara C, Şimşek E, Baş F, Aydın M, Darendeliler F.
J Clin Res Pediatr Endocrinol; 2020 Sep 02; 12(3):287-294. PubMed ID: 32157855
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18. 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 Sep 02; 62(1):101-6. PubMed ID: 25319875
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19. 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 02; 52(8):1388-92. PubMed ID: 19169499
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20.
Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Nimkarn S, Gangishetti PK, Yau M, New MI.
; 1993 Nov 02. PubMed ID: 20301350
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