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.
140 related articles for article (PubMed ID: 24501745)
21. Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis. Alcantara-Aragon V; Martinez-Couselo S; Tundidor-Rengel D; Webb SM; Carreras G; Espinos JM; Chico A; Blanco-Vaca F; Corcoy R Hormones (Athens); 2014; 13(4):585-7. PubMed ID: 25402394 [No Abstract] [Full Text] [Related]
22. Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia. Levo A; Partanen J Hum Mutat; 1997; 9(4):363-5. PubMed ID: 9101299 [No Abstract] [Full Text] [Related]
23. Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Miller WL J Clin Endocrinol Metab; 1997 Apr; 82(4):1304. PubMed ID: 9100612 [No Abstract] [Full Text] [Related]
24. A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. Kim YM; Lee BH; Choi JH; Kim GH; Lim HH; Yoo HW Gene; 2013 Sep; 527(1):394-6. PubMed ID: 23769969 [TBL] [Abstract][Full Text] [Related]
25. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. Wilson RC; Mercado AB; Cheng KC; New MI J Clin Endocrinol Metab; 1995 Aug; 80(8):2322-9. PubMed ID: 7629224 [TBL] [Abstract][Full Text] [Related]
26. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene. Concolino P; Costella A Mol Diagn Ther; 2018 Jun; 22(3):261-280. PubMed ID: 29450859 [TBL] [Abstract][Full Text] [Related]
27. Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia; case report. Kontoleon P; Ilias I; Papapetrou PD Clin Exp Obstet Gynecol; 2003; 30(4):263-4. PubMed ID: 14664429 [TBL] [Abstract][Full Text] [Related]
29. Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS. Gozzi TG; Harris NP; McGown IN; Cowley DM; Cotterill AM; Campbell PE; Anderson PK; Warne GL Pediatr Dev Pathol; 2005; 8(3):397-401. PubMed ID: 16010485 [TBL] [Abstract][Full Text] [Related]
30. Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras. Lao Q; Merke DP Eur J Hum Genet; 2021 Jul; 29(7):1047-1048. PubMed ID: 33824469 [No Abstract] [Full Text] [Related]
31. Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency. Gonçalves J; Friães A; Moura L Expert Rev Mol Med; 2007 Apr; 9(11):1-23. PubMed ID: 17466088 [TBL] [Abstract][Full Text] [Related]
32. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations. Concolino P; Mello E; Zuppi C; Capoluongo E Clin Chem Lab Med; 2010 Aug; 48(8):1057-62. PubMed ID: 20482300 [TBL] [Abstract][Full Text] [Related]
33. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Speiser PW; White PC Clin Endocrinol (Oxf); 1998 Oct; 49(4):411-7. PubMed ID: 9876336 [No Abstract] [Full Text] [Related]
34. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment. Nimkarn S; New MI Ann N Y Acad Sci; 2010 Mar; 1192():5-11. PubMed ID: 20392211 [TBL] [Abstract][Full Text] [Related]
35. [Current data on the molecular biology of 21-hydroxylase deficiency. Diagnostic applications]. Mornet E; Boué J; Crète P; Raux-Demay MC; Kutten F; Boué A Arch Fr Pediatr; 1992 Jan; 49(1):57-62. PubMed ID: 1550455 [No Abstract] [Full Text] [Related]
36. Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics. Concolino P; Mello E; Minucci A; Zuppi C; Capoluongo E Clin Chem; 2011 Jul; 57(7):1079-80. PubMed ID: 21507910 [No Abstract] [Full Text] [Related]
39. 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]
40. Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency. Chu X; Ding H; Cui G; Xu Y; Wang DW; He Y Clin Endocrinol (Oxf); 2014 Jun; 80(6):927-8. PubMed ID: 23927611 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]