BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 9364343)

  • 1. Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
    Dardis A; Bergada I; Bergada C; Rivarola M; Belgorosky A
    J Pediatr Endocrinol Metab; 1997; 10(1):55-61. PubMed ID: 9364343
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
    Kapelari K; Ghanaati Z; Wollmann H; Ventz M; Ranke MB; Kofler R; Peters H
    Hum Mutat; 1999; 13(6):505. PubMed ID: 10408786
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
    Ferenczi A; Garami M; Kiss E; Pék M; Sasvári-Székely M; Barta C; Staub M; Sólyom J; Fekete G
    J Clin Endocrinol Metab; 1999 Jul; 84(7):2369-72. PubMed ID: 10404805
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
    Tukel T; Uyguner O; Wei JQ; Yuksel-Apak M; Saka N; Song DX; Kayserili H; Bas F; Gunoz H; Wilson RC; New MI; Wollnik B
    J Clin Endocrinol Metab; 2003 Dec; 88(12):5893-7. PubMed ID: 14671187
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
    Dolzan V; Stopar-Obreza M; Zerjav-Tansek M; Breskvar K; Krzisnik C; Battelino T
    Eur J Endocrinol; 2003 Aug; 149(2):137-44. PubMed ID: 12887291
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital adrenal hyperplasia. Molecular characterization.
    Ko TM; Kao CH; Ho HN; Tseng LH; Hwa HL; Hsu PM; Chuang SM; Lee TY
    J Reprod Med; 1998 Apr; 43(4):379-86. PubMed ID: 9583072
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. [Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia].
    Fonseca D; Gutiérrez A; Silva C; Coll M; Malo G; Orjuela C; Arteaga C; Giraldo A
    Biomedica; 2005 Jun; 25(2):220-30. PubMed ID: 16022377
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
    Kharrat M; Tardy V; M'Rad R; Maazoul F; Jemaa LB; Refaï M; Morel Y; Chaabouni H
    J Clin Endocrinol Metab; 2004 Jan; 89(1):368-74. PubMed ID: 14715874
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.
    Krone N; Braun A; Weinert S; Peter M; Roscher AA; Partsch CJ; Sippell WG
    Clin Chem; 2002 Jun; 48(6 Pt 1):818-25. PubMed ID: 12028996
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
    Delague V; Souraty N; Khallouf E; Tardy V; Chouery E; Halaby G; Loiselet J; Morel Y; Mégarbané A
    Horm Res; 2000; 53(2):77-82. PubMed ID: 10971093
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
    Kotaska K; Průsa R
    Med Princ Pract; 2003; 12(4):243-7. PubMed ID: 12966197
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.