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 *

145 related articles for article (PubMed ID: 14664429)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. [Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan].
    Akhmetova VL; Ramova ZF; Malievskiĭ OA; Khusnutdinova EK
    Genetika; 2008 Oct; 44(10):1420-8. PubMed ID: 19062540
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations].
    Zhang Q; Li W; Li S; Tang W; Li L; Lu G
    Nan Fang Yi Ke Da Xue Xue Bao; 2012 May; 32(5):669-72. PubMed ID: 22588921
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Fujieda K; Mukai T
    Nihon Rinsho; 2004 Feb; 62(2):361-7. PubMed ID: 14968546
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
    Tankoska M; Anastasovska V; Krstevska-Konstantinova M; Naydenov M; Kocova M
    J Pediatr Endocrinol Metab; 2019 May; 32(5):543-547. PubMed ID: 31026224
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Mutation analysis in families with 21-hydroxylase deficiency].
    Wang H; Jiang L; Wang PP; Zhou HB; Wang JL; Song LL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Dec; 24(6):681-4. PubMed ID: 18067083
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S; Lin-Su K; New MI
    Endocrinol Metab Clin North Am; 2009 Dec; 38(4):699-718. PubMed ID: 19944288
    [TBL] [Abstract][Full Text] [Related]  

  • 31. No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.
    Kjellman M; Holst M; Bäckdahl M; Larsson C; Farnebo LO; Wedell A
    Clin Endocrinol (Oxf); 1999 Mar; 50(3):343-6. PubMed ID: 10435060
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
    Wedell A
    J Pediatr Endocrinol Metab; 1998; 11(5):581-9. PubMed ID: 9829208
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
    Rumsby G; Avey CJ; Conway GS; Honour JW
    Clin Endocrinol (Oxf); 1998 Jun; 48(6):707-11. PubMed ID: 9713558
    [TBL] [Abstract][Full Text] [Related]  

  • 35. How can molecular biology contribute to the management of congenital adrenal hyperplasia?
    Ritzén EM; Lajic S; Wedell A
    Horm Res; 2000; 53 Suppl 1():34-7. PubMed ID: 10895040
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
    Lekarev O; Tafuri K; Lane AH; Zhu G; Nakamoto JM; Buller-Burckle AM; Wilson TA; New MI
    J Perinatol; 2013 Jan; 33(1):76-8. PubMed ID: 23269230
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.
    Krone N; Braun A; Roscher AA; Knorr D; Schwarz HP
    J Clin Endocrinol Metab; 2000 Mar; 85(3):1059-65. PubMed ID: 10720040
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

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