BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

445 related articles for article (PubMed ID: 21609351)

  • 1. 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]  

  • 2. 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]  

  • 3. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I; Barac M; Milenkovic T; Ugrin M; Klaassen K; Skakic A; Jesic M; Joksic I; Mitrovic K; Todorovic S; Vujovic S; Pavlovic S; Stojiljkovic M
    J Endocrinol Invest; 2015 Nov; 38(11):1199-210. PubMed ID: 26233337
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
    Essawi M; Mazen I; Fawaz L; Hassan H; ElBagoury N; Peter M; Gaafar K; Amer M; Nabil W; Hohmann G; Soliman H; Sippell W
    J Pediatr Endocrinol Metab; 2020 Jul; 33(7):893-900. PubMed ID: 32614782
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
    Torres N; Mello MP; Germano CM; Elias LL; Moreira AC; Castro M
    Braz J Med Biol Res; 2003 Oct; 36(10):1311-8. PubMed ID: 14502362
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
    Karaoglan M
    J Pediatr Endocrinol Metab; 2019 Dec; 32(12):1311-1320. PubMed ID: 31693496
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives.
    Anastasovska V; Kocova M
    Prilozi; 2010; 31(2):71-82. PubMed ID: 21258279
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. 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]  

  • 11. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
    de Carvalho DF; Miranda MC; Gomes LG; Madureira G; Marcondes JA; Billerbeck AE; Rodrigues AS; Presti PF; Kuperman H; Damiani D; Mendonca BB; Bachega TA
    Eur J Endocrinol; 2016 Aug; 175(2):107-16. PubMed ID: 27185867
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
    Abid F; Tardy V; Gaouzi A; El Hessni A; Morel Y; Chabraoui L
    Clin Chem Lab Med; 2008; 46(12):1707-13. PubMed ID: 18973462
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. 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]  

  • 15. Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.
    Anastasovska V; Kocova M
    J Pediatr Endocrinol Metab; 2010 Sep; 23(9):921-6. PubMed ID: 21175091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
    Santos-Silva R; Cardoso R; Lopes L; Fonseca M; Espada F; Sampaio L; Brandão C; Antunes A; Bragança G; Coelho R; Bernardo T; Vieira P; Morais R; Leite AL; Ribeiro L; Carvalho B; Grangeia A; Oliveira R; Oliveira MJ; Rey V; Rosmaninho-Salgado J; Marques B; Garcia AM; Meireles A; Carvalho J; Sequeira A; Mirante A; Borges T;
    Horm Res Paediatr; 2019; 91(1):33-45. PubMed ID: 30889569
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK; Grubic Z; Yuen T; Wilson RC; Kusec V; Barisic I; Stingl K; Sansovic I; Skrabic V; Dumic M; New MI
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):51-56. PubMed ID: 27041116
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
    Skordis N; Kyriakou A; Tardy V; Ioannou YS; Varvaresou A; Dracopoulou-Vabouli M; Patsalis PC; Shammas C; Neocleous V; Phylactou LA
    Horm Res Paediatr; 2011; 75(3):180-6. PubMed ID: 20838032
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.