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Journal Abstract Search

300 related items for PubMed ID: 11744994

  • 1. Characterization of a novel receptor mutation A-->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis.
    Sills ES, Sholes TE, Perloe M, Kaplan CR, Davis JG, Tucker MJ.
    Int J Mol Med; 2002 Jan; 9(1):45-8. PubMed ID: 11744994
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  • 2. 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. [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; 56(4):347-52. PubMed ID: 11927080
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  • 4. 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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  • 5. 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 Jul; 30(3):230-2. PubMed ID: 19023143
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  • 9. 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 Jul; 5(1):28-33. PubMed ID: 7537149
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  • 10. 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. [An acceptor-splice-site mutation responsible for complete androgen insensitivity syndrome].
    Zhang W, Li X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Feb; 18(1):14-6. PubMed ID: 11172634
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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 Feb; 63(6):263-9. PubMed ID: 15925895
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  • 19. Prenatal diagnosis of androgen insensitivity syndrome.
    Bianca S, Cataliotti A, Bartoloni G, Torrente I, Barrano B, Boemi G, Lo Presti M, Indaco L, Barone C, Ettore G.
    Fetal Diagn Ther; 2009 Feb; 26(3):167-9. PubMed ID: 19844078
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