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 *

157 related articles for article (PubMed ID: 18067083)

  • 21. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
    Lobato MN; Ordóñez-Sánchez ML; Tusié-Luna MT; Meseguer A
    Hum Hered; 1999 Jun; 49(3):169-75. PubMed ID: 10364682
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
    Robins T; Bellanne-Chantelot C; Barbaro M; Cabrol S; Wedell A; Lajic S
    J Mol Med (Berl); 2007 Mar; 85(3):247-55. PubMed ID: 17119906
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.
    Chin D; Speiser PW; Imperato-McGinley J; Dixit N; Uli N; David R; Oberfield SE
    J Clin Endocrinol Metab; 1998 Jun; 83(6):1940-5. PubMed ID: 9626123
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
    Patócs A; Tóth M; Barta C; Sasvári-Székely M; Varga I; Szücs N; Jakab C; Gláz E; Rácz K
    Eur J Endocrinol; 2002 Sep; 147(3):349-55. PubMed ID: 12213672
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Yang YP; Corley N; Garcia-Heras J
    Mol Diagn; 2001 Sep; 6(3):193-9. PubMed ID: 11571713
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
    Ramazani A; Kahrizi K; Razaghiazar M; Mahdieh N; Koppens P
    Iran Biomed J; 2008 Jan; 12(1):49-53. PubMed ID: 18392095
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
    Yu Y; Wang J; Huang X; Wang Y; Yang P; Li J; Tsuei SH; Shen Y; Fu Q
    Genet Test Mol Biomarkers; 2011 Mar; 15(3):137-42. PubMed ID: 21198393
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
    Jeske YW; McGown IN; Harris M; Bowling FG; Choong CS; Cowley DM; Cotterill AM
    J Pediatr Endocrinol Metab; 2009 Feb; 22(2):127-41. PubMed ID: 19449670
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
    Witchel SS; Lee PA; Trucco M
    Am J Med Genet; 1996 Jan; 61(1):2-9. PubMed ID: 8741909
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in steroid 21-hydroxylase (CYP21).
    White PC; Tusie-Luna MT; New MI; Speiser PW
    Hum Mutat; 1994; 3(4):373-8. PubMed ID: 8081391
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
    Krone N; Braun A; Roscher AA; Schwarz HP
    Hum Mutat; 1999; 14(1):90-1. PubMed ID: 10447270
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
    Mahmoud RAA; Amr NH; Toaima NN; Kamal TM; Elsedfy HH
    J Endocrinol Invest; 2022 Feb; 45(2):347-359. PubMed ID: 34341969
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
    Barbat B; Bogyo A; Raux-Demay MC; Kuttenn F; Boué J; Simon-Bouy B; Serre JL; Mornet E
    Hum Mutat; 1995; 5(2):126-30. PubMed ID: 7749410
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
    Loke KY; Lee YS; Lee WW; Poh LK
    Horm Res; 2001; 55(4):179-84. PubMed ID: 11598371
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Mutation in the promoter region of 21-hydroxylase gene of patients with congenital adrenal hyperplasia].
    Zhao Y; Ye J; Yang X; Gu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Jun; 16(3):156-9. PubMed ID: 10359865
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
    Billerbeck AE; Bachega TA; Frazatto ET; Nishi MY; Goldberg AC; Marin ML; Madureira G; Monte O; Arnhold IJ; Mendonca BB
    J Clin Endocrinol Metab; 1999 Aug; 84(8):2870-2. PubMed ID: 10443693
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.