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 *

187 related articles for article (PubMed ID: 16010485)

  • 1. 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]  

  • 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. 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]  

  • 4. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P; Costella A
    Mol Diagn Ther; 2018 Jun; 22(3):261-280. PubMed ID: 29450859
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
    Speiser PW
    Am J Pharmacogenomics; 2001; 1(2):101-10. PubMed ID: 12174671
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
    Mizukami H; Hamamatsu A; Mori S; Hara S; Kuroda M; Nagai T; Fukunaga T
    Forensic Sci Int; 2011 Mar; 206(1-3):e71-5. PubMed ID: 20951518
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 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. Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
    Concolino P; Satta MA; Santonocito C; Carrozza C; Rocchetti S; Ameglio F; Giardina E; Zuppi C; Capoluongo E
    Clin Chim Acta; 2006 Feb; 364(1-2):298-302. PubMed ID: 16171792
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Lee HH; de Wijs IJ; Sistermans EA
    Mol Genet Metab; 2000 Aug; 70(4):322-4. PubMed ID: 10993720
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
    Wedell A
    Clin Lab Med; 1996 Mar; 16(1):125-37. PubMed ID: 8867587
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family.
    Janjanin N; Dumic M; Skrabic V; Kusec V; Grubic Z; Spehar Uroic A
    Horm Res; 2007; 67(3):111-6. PubMed ID: 17057407
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
    White PC; Bachega TA
    Semin Reprod Med; 2012 Oct; 30(5):400-9. PubMed ID: 23044877
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.