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Journal Abstract Search


362 related items for PubMed ID: 10502786

  • 1.
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  • 2. 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; 30(3):230-2. PubMed ID: 19023143
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  • 4. A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome.
    Dörk T, Schnieders F, Jakubiczka S, Wieacker P, Schroeder-Kurth T, Schmidtke J.
    Hum Mutat; 1998; 11(4):337-9. PubMed ID: 9554754
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  • 7. Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.
    Yen JL, Chang KH, Sheu JC, Lee YJ, Tsai LP.
    Acta Paediatr Taiwan; 2005; 46(2):101-5. PubMed ID: 16302589
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  • 8. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
    Jääskeläinen J, Mongan NP, Harland S, Hughes IA.
    Hum Mutat; 2006 Mar; 27(3):291. PubMed ID: 16470553
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  • 9. 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 Mar; 27(4):510-6. PubMed ID: 16582414
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  • 10. 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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  • 11. 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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  • 12. 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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  • 13. 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 Sep; 28(5):772-6. PubMed ID: 17522416
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  • 14. [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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  • 15. 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 Dec; 63(6):263-9. PubMed ID: 15925895
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  • 16. 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 Dec; 46(10):560-5. PubMed ID: 11587068
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  • 17. 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 Dec; 5(1):28-33. PubMed ID: 7537149
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  • 18. [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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  • 19. 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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  • 20. A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome.
    Copelli SB, Lumbroso S, Audran F, Pellizzari EH, Heinrich JJ, Cigorraga SB, Sultan C, Chemes HE.
    Asian J Androl; 1999 Jun; 1(1-2):73-7. PubMed ID: 11225909
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