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Journal Abstract Search

549 related items for PubMed ID: 15994751

  • 41.
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  • 42. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
    L'Allemand D, Tardy V, Grüters A, Schnabel D, Krude H, Morel Y.
    J Clin Endocrinol Metab; 2000 Dec; 85(12):4562-7. PubMed ID: 11134109
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  • 47. Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
    Ostlere LS, Rumsby G, Holownia P, Jacobs HS, Rustin MH, Honour JW.
    Clin Endocrinol (Oxf); 1998 Feb; 48(2):209-15. PubMed ID: 9579234
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  • 48. Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Porzio O, Cunsolo V, Malaponti M, De Nisco E, Acquafredda A, Cavallo L, Andreani M, Giardina E, Testi M, Cappa M, Federici G.
    J Clin Endocrinol Metab; 2006 Nov; 91(11):4510-3. PubMed ID: 16912133
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  • 49. CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
    Witchel SF, Smith R, Crivellaro CE, Della Manna T, Dichtchekenian V, Setian N, Damiani D.
    Hum Genet; 2000 Apr; 106(4):414-9. PubMed ID: 10830908
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  • 50. 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
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  • 51. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
    Nunez BS, Lobato MN, White PC, Meseguer A.
    Biochem Biophys Res Commun; 1999 Sep 07; 262(3):635-7. PubMed ID: 10471376
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  • 52. Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.
    Krone N, Roscher AA, Schwarz HP, Braun A.
    Clin Chem; 1998 Oct 07; 44(10):2075-82. PubMed ID: 9761237
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  • 53. [Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations].
    Zhang Q, Li W, Li S, Tang W, Li L, Lu G.
    Nan Fang Yi Ke Da Xue Xue Bao; 2012 May 07; 32(5):669-72. PubMed ID: 22588921
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  • 54. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.
    Proc Natl Acad Sci U S A; 2013 Feb 12; 110(7):2611-6. PubMed ID: 23359698
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  • 55. Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Yang YP, Corley N, Garcia-Heras J.
    Mol Diagn; 2001 Sep 12; 6(3):193-9. PubMed ID: 11571713
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  • 56. 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 12; 120(1):23-7. PubMed ID: 22020670
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  • 57. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC.
    J Clin Invest; 1992 Aug 12; 90(2):584-95. PubMed ID: 1644925
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  • 58. Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG.
    J Clin Endocrinol Metab; 2005 Jan 12; 90(1):445-54. PubMed ID: 15483094
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  • 59. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
    Lee HH, Chao HT, Ng HT, Choo KB.
    J Med Genet; 1996 May 12; 33(5):371-5. PubMed ID: 8733045
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  • 60. Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.
    Luczay A, Török D, Ferenczi A, Majnik J, Sólyom J, Fekete G.
    Eur J Endocrinol; 2006 Jun 12; 154(6):859-64. PubMed ID: 16728546
    [Abstract] [Full Text] [Related]

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