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Journal Abstract Search

563 related items for PubMed ID: 23269230

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  • 4. 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
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  • 5. [Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family].
    Merino P, Bachega T, Céspedes P, Trejo L, Billerbeck AE, Codner E.
    Rev Med Chil; 2007 Nov; 135(11):1450-5. PubMed ID: 18259657
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  • 6. 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
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  • 7. 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; 26(4):595-603. PubMed ID: 20818501
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  • 8. Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods.
    Kharrat M, Riahi A, Maazoul F, M'rad R, Chaabouni H.
    Diagn Mol Pathol; 2011 Jun; 20(2):123-7. PubMed ID: 21532487
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  • 9. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Dubey S, Tardy V, Chowdhury MR, Gupta N, Jain V, Deka D, Sharma P, Morel Y, Kabra M.
    Indian J Med Res; 2017 Feb; 145(2):194-202. PubMed ID: 28639595
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  • 10. Molecular analysis of the CYP21A2 gene in dried blood spot samples.
    Marino S, Perez Garrido N, Ramírez P, Pujana M, Dratler G, Belgorosky A, Marino R.
    Medicina (B Aires); 2020 Feb; 80(3):197-202. PubMed ID: 32442933
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  • 11. Diagnosis and management of classical congenital adrenal hyperplasia.
    Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ammini AC.
    Steroids; 2013 Aug; 78(8):741-6. PubMed ID: 23624029
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  • 15. 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; 46(12):1707-13. PubMed ID: 18973462
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  • 16. Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
    Forouzanfar K, Seifi M, Hashemi-Gorji F, Karimi N, Estiar MA, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R.
    Cell Mol Biol (Noisy-le-grand); 2015 Aug 17; 61(4):51-5. PubMed ID: 26278268
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  • 17. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 17; 1364(1):5-10. PubMed ID: 26291314
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  • 18. 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 17; 38(11):1199-210. PubMed ID: 26233337
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  • 19. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
    Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A.
    Horm Res; 2000 Nov 17; 53(2):77-82. PubMed ID: 10971093
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  • 20. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
    Baumgartner-Parzer SM, Fischer G, Vierhapper H.
    J Clin Endocrinol Metab; 2007 Mar 17; 92(3):1164-7. PubMed ID: 17164306
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