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186 related items for PubMed ID: 9364343

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. [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
    [Abstract] [Full Text] [Related]

  • 23. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
    Lobato MN, Ordóñez-Sánchez ML, Tusié-Luna MT, Meseguer A.
    Hum Hered; 1999 Jun; 49(3):169-75. PubMed ID: 10364682
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  • 24. Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.
    Kotaska K, Lisá L, Průsa R.
    Cent Eur J Public Health; 2003 Sep; 11(3):124-8. PubMed ID: 14514162
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia.
    Somasundaram P, Hewage S, De Silva H.
    Ceylon Med J; 2020 Dec 31; 65(4):95-104. PubMed ID: 34821488
    [Abstract] [Full Text] [Related]

  • 27. Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
    Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC.
    J Pediatr Endocrinol Metab; 2001 Jan 31; 14(1):27-35. PubMed ID: 11220701
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  • 28. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
    Owerbach D, Ballard AL, Draznin MB.
    J Clin Endocrinol Metab; 1992 Mar 31; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 29. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
    Paulino LC, Araujo M, Guerra G, Marini SH, De Mello MP.
    Acta Paediatr; 1999 Mar 31; 88(3):275-83. PubMed ID: 10229037
    [Abstract] [Full Text] [Related]

  • 30. 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 31; 22(2):127-41. PubMed ID: 19449670
    [Abstract] [Full Text] [Related]

  • 31. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
    Mornet E, Crété P, Kuttenn F, Raux-Demay MC, Boué J, White PC, Boué A.
    Am J Hum Genet; 1991 Jan 31; 48(1):79-88. PubMed ID: 1985465
    [Abstract] [Full Text] [Related]

  • 32. Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.
    Rothberg PG, Baker DW, Bradley JF.
    Genet Test; 1998 Jan 31; 2(4):343-6. PubMed ID: 10464614
    [Abstract] [Full Text] [Related]

  • 33. 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 31; 85(3):1059-65. PubMed ID: 10720040
    [Abstract] [Full Text] [Related]

  • 34. 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
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  • 35. The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
    Khajuria R, Walia R, Bhansali A, Prasad R.
    Clin Chim Acta; 2017 Jan 28; 464():189-194. PubMed ID: 27890570
    [Abstract] [Full Text] [Related]

  • 36. High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
    Campos VC, Pereira RM, Torres N, Castro Md, Aguiar-Oliveira MH.
    Arq Bras Endocrinol Metabol; 2009 Feb 28; 53(1):40-6. PubMed ID: 19347184
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  • 37. 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 Feb 28; 31(2):71-82. PubMed ID: 21258279
    [Abstract] [Full Text] [Related]

  • 38. 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 28; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 39. The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
    Dracopoulou-Vabouli M, Maniati-Christidi M, Dacou-Voutetakis C.
    J Clin Endocrinol Metab; 2001 Jun 28; 86(6):2845-8. PubMed ID: 11397897
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  • 40. Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.
    Fardella CE, Poggi H, Pineda P, Soto J, Torrealba I, Cattani A, Oestreicher E, Foradori A.
    J Clin Endocrinol Metab; 1998 Sep 28; 83(9):3357-60. PubMed ID: 9745454
    [Abstract] [Full Text] [Related]

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