696 related items for PubMed ID: 21534945
1. 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
[Abstract] [Full Text] [Related]
2. 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
[Abstract] [Full Text] [Related]
3. Diagnosis and management of classical congenital adrenal hyperplasia.
Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ammini AC.
Steroids; 2013 Aug 10; 78(8):741-6. PubMed ID: 23624029
[Abstract] [Full Text] [Related]
4. 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
[Abstract] [Full Text] [Related]
5. 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]
6. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.
Dumic K, Krnic N, Skrabic V, Stipancic G, Cvijovic K, Kusec V, Stingl K.
Horm Res; 2009 May 27; 72(4):247-51. PubMed ID: 19786796
[Abstract] [Full Text] [Related]
7. 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 May 27; 62(1):101-6. PubMed ID: 25319875
[Abstract] [Full Text] [Related]
8. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG.
Hum Reprod Update; 2004 May 27; 10(6):469-85. PubMed ID: 15514016
[Abstract] [Full Text] [Related]
9. [Usefulness of molecular analysis in the differential diagnosis of congenital 21-hidroxylase deficiency detected in neonatal screening].
Soriano Guillén L, Velázquez De Cuellar Paracchi M, Ezquieta B.
Med Clin (Barc); 2011 Mar 19; 136(7):313-4. PubMed ID: 19766262
[No Abstract] [Full Text] [Related]
10. 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 19; 165(Pt A):51-56. PubMed ID: 27041116
[Abstract] [Full Text] [Related]
11. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.
Dumic K, Krnic N, Skrabic V, Stipancic G, Cvijovic K, Kusec V, Stingl K.
Horm Res; 2009 Jan 19; 72(5):310-4. PubMed ID: 19844117
[Abstract] [Full Text] [Related]
12. Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of life.
Bonfig W, Schwarz HP.
Horm Res Paediatr; 2011 Jan 19; 75(4):264-8. PubMed ID: 21196707
[Abstract] [Full Text] [Related]
13. 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 19; 109(2):148-55. PubMed ID: 20206839
[Abstract] [Full Text] [Related]
14. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.
Eur J Endocrinol; 2016 Aug 19; 175(2):107-16. PubMed ID: 27185867
[Abstract] [Full Text] [Related]
15. 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 19; 76(6):503-10. PubMed ID: 19930153
[Abstract] [Full Text] [Related]
16. 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 Dec 19; 14():1134133. PubMed ID: 37008950
[Abstract] [Full Text] [Related]
17. 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 Dec 19; 95(3):282-290. PubMed ID: 29715434
[Abstract] [Full Text] [Related]
18. Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.
Sharma R, Seth A.
Indian J Pediatr; 2014 Feb 19; 81(2):178-85. PubMed ID: 24254335
[Abstract] [Full Text] [Related]
19. Salt wasting in simple virilizing congenital adrenal hyperplasia.
Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H.
J Pediatr Endocrinol Metab; 2001 Feb 19; 14(9):1649-55. PubMed ID: 11795656
[Abstract] [Full Text] [Related]
20. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
Rumsby G, Avey CJ, Conway GS, Honour JW.
Clin Endocrinol (Oxf); 1998 Jun 19; 48(6):707-11. PubMed ID: 9713558
[Abstract] [Full Text] [Related]
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