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 *

118 related articles for article (PubMed ID: 24970489)

  • 21. CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
    Concolino P; Mello E; Zuppi C; Toscano V; Capoluongo E
    Diagn Mol Pathol; 2013 Mar; 22(1):48-51. PubMed ID: 23370425
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.
    Lee HH; Tsai FJ; Lee YJ; Yang YC
    Mol Genet Metab; 2006 Aug; 88(4):372-7. PubMed ID: 16684614
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
    Choi JH; Jin HY; Lee BH; Ko JM; Lee JJ; Kim GH; Jung CW; Lee J; Yoo HW
    Exp Clin Endocrinol Diabetes; 2012 Jan; 120(1):23-7. PubMed ID: 22020670
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
    Vrzalová Z; Hrubá Z; Hrabincová ES; Vrábelová S; Votava F; Koloušková S; Fajkusová L
    Eur J Med Genet; 2011; 54(2):112-7. PubMed ID: 20970527
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia].
    Pan X
    Zhonghua Yi Xue Za Zhi; 1991 Jun; 71(6):318-20, 24. PubMed ID: 1667494
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A; Longo V; Dimatteo C; De Girolamo G; Trunzo R; D'Andrea G; Bafunno V; Margaglione M; Santacroce R
    Clin Chim Acta; 2014 Nov; 437():48-51. PubMed ID: 25025300
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Response to Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".
    Marino R; Perez Garrido N; Ramirez P; Belgorosky A
    J Clin Endocrinol Metab; 2021 Jun; 106(7):e2837-e2838. PubMed ID: 33901286
    [No Abstract]   [Full Text] [Related]  

  • 28. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
    Baumgartner-Parzer SM; Fischer G; Vierhapper H
    J Clin Endocrinol Metab; 2007 Mar; 92(3):1164-7. PubMed ID: 17164306
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".
    Lao Q; Merke DP
    J Clin Endocrinol Metab; 2021 Jun; 106(7):e2835-e2836. PubMed ID: 33901292
    [No Abstract]   [Full Text] [Related]  

  • 30. Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
    Chang SF; Lee HH
    Genet Test Mol Biomarkers; 2011; 15(1-2):35-42. PubMed ID: 21117955
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X).
    Chen Cardenas SM; El-Kaissi S; Jarad O; Liaqat M; Korbonits M; Hamrahian AH
    J Endocr Soc; 2020 Aug; 4(8):bvaa077. PubMed ID: 32715272
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
    Chen W; Kim MS; Shanbhag S; Arai A; VanRyzin C; McDonnell NB; Merke DP
    Am J Med Genet A; 2009 Dec; 149A(12):2803-8. PubMed ID: 19921645
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
    Jang JH; Jin DK; Kim JH; Tan HK; Kim JW; Lee SY; Ki CS; Park HD
    Ann Clin Lab Sci; 2011; 41(1):44-7. PubMed ID: 21325254
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.
    Rabbani B; Mahdieh N; Sayarifar F; Ashtiani MT; New M; Parsa A; Akbari MT; Rabbani A
    Clin Lab; 2012; 58(9-10):1063-6. PubMed ID: 23163125
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
    Kim JH; Kim GH; Yoo HW; Choi JH
    Ann Pediatr Endocrinol Metab; 2023 Jun; 28(2):77-86. PubMed ID: 37401054
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
    Nimkarn S; Cerame BI; Wei JQ; Dumic M; Zunec R; Brkljacic L; Skrabić V; New MI; Wilson RC
    J Clin Endocrinol Metab; 1999 Jan; 84(1):378-81. PubMed ID: 9920112
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.
    Lee HH; Lee YJ; Chao MC
    Anal Biochem; 2010 Apr; 399(2):293-8. PubMed ID: 19961824
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
    Tsai LP; Cheng CF; Hsieh JP; Teng MS; Lee HH
    Clin Chim Acta; 2009 Dec; 410(1-2):48-53. PubMed ID: 19778530
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
    Baradaran-Heravi A; Vakili R; Robins T; Carlsson J; Ghaemi N; A'rabi A; Abbaszadegan MR
    Clin Endocrinol (Oxf); 2007 Sep; 67(3):335-41. PubMed ID: 17573904
    [TBL] [Abstract][Full Text] [Related]  

  • 40. p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
    Concolino P; Mello E; Patrosso MC; Penco S; Zuppi C; Capoluongo E
    Metabolism; 2012 Apr; 61(4):519-24. PubMed ID: 22014889
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.