These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan. Shinagawa T; Horikawa R; Isojima T; Naiki Y; Tanaka T; Katsumata N Endocr J; 2007 Dec; 54(6):1021-5. PubMed ID: 18048990 [TBL] [Abstract][Full Text] [Related]
4. Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21. Koyama S; Toyoura T; Saisho S; Shimozawa K; Yata J J Clin Endocrinol Metab; 2002 Jun; 87(6):2668-73. PubMed ID: 12050231 [TBL] [Abstract][Full Text] [Related]
5. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients]. Liao XY; Zhang YF; Gu XF Zhonghua Er Ke Za Zhi; 2003 Sep; 41(9):670-4. PubMed ID: 14733808 [TBL] [Abstract][Full Text] [Related]
6. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Dolzan V; Sólyom J; Fekete G; Kovács J; Rakosnikova V; Votava F; Lebl J; Pribilincova Z; Baumgartner-Parzer SM; Riedl S; Waldhauser F; Frisch H; Stopar-Obreza M; Krzisnik C; Battelino T Eur J Endocrinol; 2005 Jul; 153(1):99-106. PubMed ID: 15994751 [TBL] [Abstract][Full Text] [Related]
7. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. Marino R; Ramirez P; Galeano J; Perez Garrido N; Rocco C; Ciaccio M; Warman DM; Guercio G; Chaler E; Maceiras M; Bergadá I; Gryngarten M; Balbi V; Pardes E; Rivarola MA; Belgorosky A Clin Endocrinol (Oxf); 2011 Oct; 75(4):427-35. PubMed ID: 21609351 [TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. Vakili R; Baradaran-Heravi A; Barid-Fatehi B; Gholamin M; Ghaemi N; Abbaszadegan MR Horm Res; 2005; 63(3):119-24. PubMed ID: 15775714 [TBL] [Abstract][Full Text] [Related]
9. Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients. Dain LB; Buzzalino ND; Oneto A; Belli S; Stivel M; Pasqualini T; Minutolo C; Charreau EH; Alba LG Clin Endocrinol (Oxf); 2002 Feb; 56(2):239-45. PubMed ID: 11874416 [TBL] [Abstract][Full Text] [Related]
10. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. Asanuma A; Ohura T; Ogawa E; Sato S; Igarashi Y; Matsubara Y; Iinuma K J Hum Genet; 1999; 44(5):312-7. PubMed ID: 10496074 [TBL] [Abstract][Full Text] [Related]
11. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. Stikkelbroeck NM; Hoefsloot LH; de Wijs IJ; Otten BJ; Hermus AR; Sistermans EA J Clin Endocrinol Metab; 2003 Aug; 88(8):3852-9. PubMed ID: 12915679 [TBL] [Abstract][Full Text] [Related]
12. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. Krone N; Braun A; Roscher AA; Knorr D; Schwarz HP J Clin Endocrinol Metab; 2000 Mar; 85(3):1059-65. PubMed ID: 10720040 [TBL] [Abstract][Full Text] [Related]
13. High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil. Campos VC; Pereira RM; Torres N; Castro Md; Aguiar-Oliveira MH Arq Bras Endocrinol Metabol; 2009 Feb; 53(1):40-6. PubMed ID: 19347184 [TBL] [Abstract][Full Text] [Related]
14. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. Grigorescu Sido A; Weber MM; Grigorescu Sido P; Clausmeyer S; Heinrich U; Schulze E J Clin Endocrinol Metab; 2005 Oct; 90(10):5769-73. PubMed ID: 16046588 [TBL] [Abstract][Full Text] [Related]
15. CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency. Witchel SF; Smith R; Crivellaro CE; Della Manna T; Dichtchekenian V; Setian N; Damiani D Hum Genet; 2000 Apr; 106(4):414-9. PubMed ID: 10830908 [TBL] [Abstract][Full Text] [Related]
16. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. Baş F; Kayserili H; Darendeliler F; Uyguner O; Günöz H; Yüksel Apak M; Atalar F; Bundak R; Wilson RC; New MI; Wollnik B; Saka N J Clin Res Pediatr Endocrinol; 2009; 1(3):116-28. PubMed ID: 21274396 [TBL] [Abstract][Full Text] [Related]
17. 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; 526(2):239-45. PubMed ID: 23570880 [TBL] [Abstract][Full Text] [Related]
18. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. Torres N; Mello MP; Germano CM; Elias LL; Moreira AC; Castro M Braz J Med Biol Res; 2003 Oct; 36(10):1311-8. PubMed ID: 14502362 [TBL] [Abstract][Full Text] [Related]
19. [Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency]. Zhang B; Lu ZL; Wang Y; Tao H Yi Chuan Xue Bao; 2004 Sep; 31(9):950-5. PubMed ID: 15493145 [TBL] [Abstract][Full Text] [Related]
20. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Bachega TA; Billerbeck AE; Marcondes JA; Madureira G; Arnhold IJ; Mendonca BB Clin Endocrinol (Oxf); 2000 May; 52(5):601-7. PubMed ID: 10792340 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]