118 related items for PubMed ID: 31159521
1. [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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2. 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 01; 117(2):126-131. PubMed ID: 28392195
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3. 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 01; 109(2):148-55. PubMed ID: 20206839
[Abstract] [Full Text] [Related]
4. [Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M.
Zhonghua Yi Xue Za Zhi; 2020 Mar 03; 100(8):586-592. PubMed ID: 32164112
[Abstract] [Full Text] [Related]
5. Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report.
Liang D, Han M, Xu L, Ren Y, Zhang Y, Yin J, Yang J, Liu Y.
Medicine (Baltimore); 2022 Oct 28; 101(43):e31443. PubMed ID: 36316845
[Abstract] [Full Text] [Related]
6. Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Xia Y, Shi P, Gao S, Liu N, Zhang H, Kong X.
J Steroid Biochem Mol Biol; 2022 Sep 28; 222():106156. PubMed ID: 35882282
[Abstract] [Full Text] [Related]
7. Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China.
Hou L, Liang L, Lin S, Ou H, Liu Z, Huang S, Zhang L, Meng Z.
Steroids; 2019 Nov 28; 151():108474. PubMed ID: 31446012
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8. 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 Nov 28; 62(1):101-6. PubMed ID: 25319875
[Abstract] [Full Text] [Related]
9. 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 Nov 28; 24(3-4):155-62. PubMed ID: 21648283
[Abstract] [Full Text] [Related]
10. Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
Cavarzere P, Vincenzi M, Teofoli F, Gaudino R, Lauriola S, Maines E, Camilot M, Antoniazzi F.
J Endocrinol Invest; 2013 Dec 28; 36(11):1083-9. PubMed ID: 24081139
[Abstract] [Full Text] [Related]
11. 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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12. Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L, Yin X, Cheng J, Cai Y, Wu D, Feng Z, Liu L.
Clin Chim Acta; 2018 Nov 10; 486():142-150. PubMed ID: 30048636
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13. 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
[Abstract] [Full Text] [Related]
14. 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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15. 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 Aug 10; 77(3):195-9. PubMed ID: 22508345
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16. Congenital adrenal hyperplasia in adolescents: diagnosis and management.
Lin-Su K, Nimkarn S, New MI.
Ann N Y Acad Sci; 2008 Aug 10; 1135():95-8. PubMed ID: 18574213
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17. 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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18. [Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].
Wang RF, Gu XF, Ye J, Han LS, Qiu WJ, Zhang HW, Yu YG, Gong ZW.
Zhonghua Er Ke Za Zhi; 2016 Sep 10; 54(9):679-85. PubMed ID: 27596083
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19. 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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20. [Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].
Xiao HW, Ma HM, Su Z, Du ML, Li YH, Chen HS, Chen QL.
Zhonghua Er Ke Za Zhi; 2012 Apr 10; 50(4):301-7. PubMed ID: 22801236
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