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Journal Abstract Search

262 related items for PubMed ID: 32185686

  • 21. The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
    Livadas S, Dracopoulou M, Dastamani A, Sertedaki A, Maniati-Christidi M, Magiakou AM, Kanaka-Gantenbein C, Chrousos GP, Dacou-Voutetakis C.
    Clin Endocrinol (Oxf); 2015 Apr; 82(4):543-9. PubMed ID: 25041270
    [Abstract] [Full Text] [Related]

  • 22. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
    Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.
    J Clin Endocrinol Metab; 2009 Oct; 94(10):3954-8. PubMed ID: 19773403
    [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
    [Abstract] [Full Text] [Related]

  • 24. Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.
    Lao Q, Zhou K, Parker M, Faucz FR, Merke DP.
    Genes (Basel); 2023 Jan 19; 14(2):. PubMed ID: 36833192
    [Abstract] [Full Text] [Related]

  • 25. Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
    Ma D, Chen Y, Sun Y, Yang B, Cheng J, Huang M, Zhang J, Zhang J, Hu P, Lin Y, Jiang T, Xu Z.
    Clin Biochem; 2014 Apr 19; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 26. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb 19; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 27. CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
    Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW.
    Ann Lab Med; 2015 Sep 19; 35(5):535-9. PubMed ID: 26206692
    [Abstract] [Full Text] [Related]

  • 28. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
    Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW.
    Exp Clin Endocrinol Diabetes; 2012 Jan 19; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 29. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
    Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A.
    Gene; 2013 Jan 15; 513(1):202-8. PubMed ID: 23142378
    [Abstract] [Full Text] [Related]

  • 30. 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 15; 36(10):1311-8. PubMed ID: 14502362
    [Abstract] [Full Text] [Related]

  • 31. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.
    J Clin Endocrinol Metab; 2011 Jan 15; 96(1):E161-72. PubMed ID: 20926536
    [Abstract] [Full Text] [Related]

  • 32. 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 15; 175(2):107-16. PubMed ID: 27185867
    [Abstract] [Full Text] [Related]

  • 33. Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.
    Jiang L, Song LL, Wang H, Wang JL, Wang PP, Zhou HB, Zhang XL.
    J Endocrinol Invest; 2012 May 15; 35(5):485-9. PubMed ID: 21750395
    [Abstract] [Full Text] [Related]

  • 34. 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 15; 23(9):921-6. PubMed ID: 21175091
    [Abstract] [Full Text] [Related]

  • 35. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U.
    Front Endocrinol (Lausanne); 2023 Sep 15; 14():1134133. PubMed ID: 37008950
    [Abstract] [Full Text] [Related]

  • 36. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
    Concolino P, Perrucci A, Carrozza C, Urbani A.
    Mol Diagn Ther; 2023 Sep 15; 27(5):621-630. PubMed ID: 37548905
    [Abstract] [Full Text] [Related]

  • 37. Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
    Su L, Yin X, Cheng J, Cai Y, Wu D, Feng Z, Liu L.
    Clin Chim Acta; 2018 Nov 15; 486():142-150. PubMed ID: 30048636
    [Abstract] [Full Text] [Related]

  • 38. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
    Int J Mol Med; 2010 Oct 15; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 39. Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
    Narasimhan ML, Khattab A.
    Fertil Steril; 2019 Jan 15; 111(1):24-29. PubMed ID: 30611409
    [Abstract] [Full Text] [Related]

  • 40. Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
    Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W, United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).
    J Clin Endocrinol Metab; 2013 Feb 15; 98(2):E346-54. PubMed ID: 23337727
    [Abstract] [Full Text] [Related]

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