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Journal Abstract Search

605 related items for PubMed ID: 19178528

  • 1. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype.
    Tadokoro R, Bunch T, Schwabe JW, Hughes IA, Murphy JC.
    Clin Endocrinol (Oxf); 2009 Aug; 71(2):253-60. PubMed ID: 19178528
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  • 3. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
    Deeb A, Mason C, Lee YS, Hughes IA.
    Clin Endocrinol (Oxf); 2005 Jul; 63(1):56-62. PubMed ID: 15963062
    [Abstract] [Full Text] [Related]

  • 4. Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.
    MacLean HE, Ball EM, Rekaris G, Warne GL, Zajac JD.
    Hum Mutat; 2004 Mar; 23(3):287. PubMed ID: 14974091
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  • 5. Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility.
    Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, Brinkmann AO, Foresta C.
    Clin Endocrinol (Oxf); 2008 Apr; 68(4):580-8. PubMed ID: 17970778
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  • 6. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
    Raicu F, Giuliani R, Gatta V, Palka C, Franchi PG, Lelli-Chiesa P, Tumini S, Stuppia L.
    Asian J Androl; 2008 Jul; 10(4):687-91. PubMed ID: 18097502
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  • 7. Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
    Chávez B, Méndez JP, Ulloa-Aguirre A, Larrea F, Vilchis F.
    J Hum Genet; 2001 Jul; 46(10):560-5. PubMed ID: 11587068
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  • 8. In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.
    Werner R, Zhan J, Gesing J, Struve D, Hiort O.
    Sex Dev; 2008 Jul; 2(2):73-83. PubMed ID: 18577874
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  • 9. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
    Holterhus PM, Werner R, Struve D, Hauffa BP, Schroeder C, Hiort O.
    Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980
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  • 11. 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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  • 12. Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.
    Quigley CA, Tan JA, He B, Zhou ZX, Mebarki F, Morel Y, Forest MG, Chatelain P, Ritzén EM, French FS, Wilson EM.
    Mech Ageing Dev; 2004 Sep; 125(10-11):683-95. PubMed ID: 15541764
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  • 13. G708E mutation in the androgen receptor results in complete loss of androgen function.
    Rajender S, Pooja S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K.
    J Androl; 2011 Sep; 32(2):193-8. PubMed ID: 20671138
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  • 14. A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia.
    Singh R, Shastry PK, Rasalkar AA, Singh L, Thangaraj K.
    J Androl; 2006 Sep; 27(4):510-6. PubMed ID: 16582414
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  • 15. Analysis of exon 1 mutations in the androgen receptor gene.
    Gottlieb B, Vasiliou DM, Lumbroso R, Beitel LK, Pinsky L, Trifiro MA.
    Hum Mutat; 1999 Sep; 14(6):527-39. PubMed ID: 10571951
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  • 16. Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome.
    Wu JH, Gottlieb B, Batist G, Sulea T, Purisima EO, Beitel LK, Trifiro M.
    Hum Mutat; 2003 Dec; 22(6):465-75. PubMed ID: 14635106
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  • 17. L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor.
    Rajender S, Singh L, Thangaraj K.
    J Androl; 2007 Dec; 28(5):772-6. PubMed ID: 17522416
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  • 19. [Androgen insensitivity syndrome. Clinical features and molecular genetics].
    Sólyom J, Scheiber D, Fekete G.
    Orv Hetil; 2001 Aug 05; 142(31):1659-65. PubMed ID: 11556259
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  • 20. [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 05; 26(6):606-9. PubMed ID: 19953479
    [Abstract] [Full Text] [Related]

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