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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

93 related articles for article (PubMed ID: 21488305)

  • 21. Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
    Grischuk Y; Rubtsov P; Riepe FG; Grötzinger J; Beljelarskaia S; Prassolov V; Kalintchenko N; Semitcheva T; Peterkova V; Tiulpakov A; Sippell WG; Krone N
    J Clin Endocrinol Metab; 2006 Dec; 91(12):4976-80. PubMed ID: 16984992
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
    Riepe FG; Tatzel S; Sippell WG; Pleiss J; Krone N
    Endocrinology; 2005 Jun; 146(6):2563-74. PubMed ID: 15731361
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.
    Robins T; Barbaro M; Lajic S; Wedell A
    J Clin Endocrinol Metab; 2005 Apr; 90(4):2148-53. PubMed ID: 15623806
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Nonsense mutation causing steroid 21-hydroxylase deficiency.
    Globerman H; Amor M; Parker KL; New MI; White PC
    J Clin Invest; 1988 Jul; 82(1):139-44. PubMed ID: 3267225
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.
    Marques CJ; Pignatelli D; Carvalho B; Barceló J; Almeida AC; Fernandes S; Witchel SF; Sousa M; Oliveira MJ; Freitas P; Fontoura M; Carvalho D; Barros A; Carvalho F
    Exp Clin Endocrinol Diabetes; 2010 Aug; 118(8):505-12. PubMed ID: 19856253
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia.
    Lee HH; Chao MC; Lee YJ
    Clin Endocrinol (Oxf); 2006 Feb; 64(2):227-9. PubMed ID: 16430727
    [No Abstract]   [Full Text] [Related]  

  • 27. Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
    Liu J; Zhang X; Zhang H; Fang L; Xu J; Guan Q; Xu C
    Mol Med Rep; 2018 Mar; 17(3):4265-4272. PubMed ID: 29328376
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
    Neocleous V; Ioannou YS; Bartsota M; Costi C; Skordis N; Phylactou LA
    Clin Biochem; 2009 Sep; 42(13-14):1363-7. PubMed ID: 19501079
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.
    Dayal D; Agarwal M
    Indian Pediatr; 2019 Jan; 56(1):76. PubMed ID: 30806372
    [No Abstract]   [Full Text] [Related]  

  • 30. CYP21A2 gene mutation in South Indian children with congenital adrenal hyperplasia.
    Ganesh R; Suresh N; Janakiraman L; Ravikumar K
    Indian Pediatr; 2015 Aug; 52(8):710-1. PubMed ID: 26388637
    [No Abstract]   [Full Text] [Related]  

  • 31. Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
    Di Pasquale L; Indovina S; Wasniewska M; Mirabelli S; Porcelli P; Rulli I; Salzano G; De Luca F
    J Endocrinol Invest; 2007 Oct; 30(9):806-7. PubMed ID: 17993777
    [No Abstract]   [Full Text] [Related]  

  • 32. Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.
    Barbaro M; Soardi FC; de Mello MP; Wedell A; Lajic S
    Clin Endocrinol (Oxf); 2012 May; 76(5):766-8. PubMed ID: 22040027
    [No Abstract]   [Full Text] [Related]  

  • 33. [Characterization of new splicing mutation in steroid 21-hydroxylase gene].
    Rubtsov PM; Igudin EL; Pichugina MIu; Spirin PV; Prasolov VS; Tul'pakov AN
    Bioorg Khim; 2011; 37(6):815-20. PubMed ID: 22497080
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
    Koppens PF; Hoogenboezem T; Degenhart HJ
    Hum Genet; 2002 Oct; 111(4-5):405-10. PubMed ID: 12384784
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
    Baumgartner-Parzer SM; Schulze E; Waldhäusl W; Pauschenwein S; Rondot S; Nowotny P; Meyer K; Frisch H; Waldhauser F; Vierhapper H
    J Clin Endocrinol Metab; 2001 Oct; 86(10):4771-5. PubMed ID: 11600539
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
    Riepe FG; Hiort O; Grötzinger J; Sippell WG; Krone N; Holterhus PM
    J Clin Endocrinol Metab; 2008 Jul; 93(7):2891-5. PubMed ID: 18445671
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
    Claahsen-van der Grinten HL; Hoefsloot LH
    Ned Tijdschr Geneeskd; 2007 May; 151(21):1174-7. PubMed ID: 17557757
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
    Nunez BS; Lobato MN; White PC; Meseguer A
    Biochem Biophys Res Commun; 1999 Sep; 262(3):635-7. PubMed ID: 10471376
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel human pathological mutations. Gene symbol: CYP17A1. Disease: 17alpha-hydroxylase/17,20-lyase deficiency.
    Yao F; Qinjie T
    Hum Genet; 2009 Aug; 126(2):340. PubMed ID: 19694020
    [No Abstract]   [Full Text] [Related]  

  • 40. Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
    Mouritsen A; Jørgensen N; Main KM; Schwartz M; Juul A
    Int J Androl; 2010 Jun; 33(3):521-7. PubMed ID: 19531083
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.