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Journal Abstract Search

166 related items for PubMed ID: 1487249

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  • 4. A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form.
    Imai A, Ohno T, Iida K, Ohsuye K, Okano Y, Tamaya T.
    Ann Clin Biochem; 1995 Sep; 32 ( Pt 5)():482-6. PubMed ID: 8830623
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  • 5. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
    Murono K, Mendonca BB, Arnhold IJ, Rigon AC, Migeon CJ, Brown TR.
    Hum Mutat; 1995 Sep; 6(2):152-62. PubMed ID: 7581399
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  • 6. Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
    Saunders PT, Padayachi T, Tincello DG, Shalet SM, Wu FC.
    Clin Endocrinol (Oxf); 1992 Sep; 37(3):214-20. PubMed ID: 1424203
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  • 7. [Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
    Wu W, Luo F, Geng Q, Hao Y, Chen W, Cai J, Xie J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec; 26(6):606-9. PubMed ID: 19953479
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  • 8. Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.
    Choi C, Kim KC, Kim HO, Cho SH, Lee JB, Kim IS, Park KK, Cho NH, Juhng SW.
    Arch Gynecol Obstet; 2000 Apr; 263(4):201-5. PubMed ID: 10834333
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  • 9. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
    Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA.
    J Clin Endocrinol Metab; 2000 Feb; 85(2):658-65. PubMed ID: 10690872
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  • 10. An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
    Sai TJ, Seino S, Chang CS, Trifiro M, Pinsky L, Mhatre A, Kaufman M, Lambert B, Trapman J, Brinkmann AO.
    Am J Hum Genet; 1990 Jun; 46(6):1095-100. PubMed ID: 2339702
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  • 13. Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.
    Imasaki K, Hasegawa T, Okabe T, Sakai Y, Haji M, Takayanagi R, Nawata H.
    Eur J Endocrinol; 1994 Jun; 130(6):569-74. PubMed ID: 8205256
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  • 14. A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred.
    Zhu YS, Cai LQ, Cordero JJ, Canovatchel WJ, Katz MD, Imperato-McGinley J.
    J Clin Endocrinol Metab; 1999 May; 84(5):1590-4. PubMed ID: 10323385
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  • 15. Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome.
    Suzuki K, Fukabori Y, Nakazato H, Hasumi M, Matsui H, Ito K, Kurokawa K, Yamanaka H.
    Int J Androl; 2001 Jun; 24(3):183-8. PubMed ID: 11380707
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  • 16. Single nucleotide substitution of the androgen receptor gene in a case with receptor-positive androgen insensitivity syndrome (complete form).
    Kasumi H, Komori S, Yamasaki N, Shima H, Isojima S.
    Acta Endocrinol (Copenh); 1993 Apr; 128(4):355-60. PubMed ID: 8498155
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  • 17. Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.
    Rosa S, Biason-Lauber A, Mongan NP, Navratil F, Schoenle EJ.
    J Clin Endocrinol Metab; 2002 Sep; 87(9):4378-82. PubMed ID: 12213902
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  • 18. Novel and recurrent mutations in patients with androgen insensitivity syndromes.
    Ledig S, Jakubiczka S, Neulen J, Aulepp U, Burck-Lehmann U, Mohnike K, Thiele H, Zierler H, Brewer C, Wieacker P.
    Horm Res; 2005 Sep; 63(6):263-9. PubMed ID: 15925895
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  • 19. Molecular basis of androgen insensitivity.
    Brüggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO.
    J Steroid Biochem Mol Biol; 1996 Aug; 58(5-6):569-75. PubMed ID: 8918984
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  • 20. Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity.
    Chávez B, Vilchis F, Zenteno JC, Larrea F, Kofman-Alfaro S.
    Clin Genet; 2001 Mar; 59(3):185-8. PubMed ID: 11260228
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