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447 related items for 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
    [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 Oct; 1(3):116-28. PubMed ID: 21274396
    [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
    [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 28; 33(7):893-900. PubMed ID: 32614782
    [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 28; 36(10):1311-8. PubMed ID: 14502362
    [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 18; 32(12):1311-1320. PubMed ID: 31693496
    [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 10; 526(2):239-45. PubMed ID: 23570880
    [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 Sep 10; 31(2):71-82. PubMed ID: 21258279
    [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 10; 41(9):670-4. PubMed ID: 14733808
    [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 10; 88(8):3852-9. PubMed ID: 12915679
    [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 10; 175(2):107-16. PubMed ID: 27185867
    [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 Aug 10; 46(12):1707-13. PubMed ID: 18973462
    [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 10; 44(10):1420-8. PubMed ID: 19062540
    [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 10; 85(3):1059-65. PubMed ID: 10720040
    [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 10; 23(9):921-6. PubMed ID: 21175091
    [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, on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology.
    Horm Res Paediatr; 2019 Sep 10; 91(1):33-45. PubMed ID: 30889569
    [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 10; 67(3):335-41. PubMed ID: 17573904
    [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 10; 165(Pt A):51-56. PubMed ID: 27041116
    [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 Jan 10; 13(6):505. PubMed ID: 10408786
    [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 Jan 10; 75(3):180-6. PubMed ID: 20838032
    [Abstract] [Full Text] [Related]

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