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Journal Abstract Search

329 related items for PubMed ID: 16759930

  • 1. A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome.
    Turek-Plewa J, Eckersdorf-Mastalerz A, Kaluzewski B, Helszer Z, Trzeciak WH.
    Fertil Steril; 2006 Jun; 85(6):1822.e1-4. PubMed ID: 16759930
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  • 3. Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding.
    Rajender S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K.
    Fertil Steril; 2009 Mar; 91(3):933.e23-8. PubMed ID: 19062009
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  • 4. Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine.
    Sawai H, Komori S, Sakata K, Nakae K, Shima H, Matsumoto F, Matsumoto H, Onishi Y, Okada Y, Yoshida O, Koyama K.
    J Hum Genet; 2000 Mar; 45(6):342-5. PubMed ID: 11185742
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  • 7. A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia.
    Sharma V, Singh R, Thangaraj K, Jyothy A.
    Fertil Steril; 2011 Feb; 95(2):804.e19-21. PubMed ID: 20888558
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  • 8. 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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  • 9. Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome.
    Radpour R, Falah M, Aslani A, Zhong XY, Saleki A.
    J Androl; 2009 Mar; 30(3):230-2. PubMed ID: 19023143
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  • 10. 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 Mar; 6(2):152-62. PubMed ID: 7581399
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  • 11. A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
    Melo KF, Latronico AC, Costa EM, Billerbeck AE, Mendonca BB, Arnhold IJ.
    Hum Mutat; 1999 Oct; 14(4):353. PubMed ID: 10502786
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  • 12. Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.
    Goglia U, Vinanzi C, Zuccarello D, Malpassi D, Ameri P, Casu M, Minuto F, Foresta C, Ferone D.
    Fertil Steril; 2011 Nov; 96(5):1165-9. PubMed ID: 21962961
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  • 13. Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
    Belsham DD, Pereira F, Greenberg CR, Liao S, Wrogemann K.
    Hum Mutat; 1995 Nov; 5(1):28-33. PubMed ID: 7537149
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  • 14. Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.
    Elhaji YA, Stoica I, Dennis S, Purisima EO, Lumbroso R, Beitel LK, Trifiro MA.
    Hum Mol Genet; 2006 Mar 15; 15(6):921-31. PubMed ID: 16449235
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  • 16. Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants.
    Nichols JL, Bieber EJ, Gell JS.
    Fertil Steril; 2009 Mar 15; 91(3):932.e15-8. PubMed ID: 18930210
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  • 20. [Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].
    Soriano Guillén L, Muñoz Calvo MT, Martinez Pérez J, Pozo Román J, Martín Sobrino MA, González Medeiro I, Argente Oliver J.
    An Esp Pediatr; 2002 Apr 15; 56(4):347-52. PubMed ID: 11927080
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